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  • Title: XLH :: Home
    Descriptive info: .. Home.. What is XLH?.. Symptoms of XLH.. Links.. Diagnosis.. Treating XLH.. Frequently Asked Questions.. Patient Registry.. Clinical Trials.. Medical Professionals.. Information on XLH.. XLH Research.. XLH Research Citations.. Medical Professional Form.. Donate.. About Us.. Contact Us.. Privacy Policy.. Board of Directors.. Scientific Advisors.. Disclaimer.. Become a Member.. The XLH Network - Your support network for.. X-Linked Hypophosphatemia.. X-Linked Hypophosphatemia is not often seen, so not a lot of information is available.. It's a condition that is usually diagnosed in children, but being unusual it is often misdiagnosed or in milder cases may not be focused on by the physician or family.. It usually first shows up as bowed legs in a child and rickets may be diagnosed, but it is often mistaken for nutritional rickets.. However,.. it resists traditional Vitamin D and sunshine therapy, and vitamin D levels are usually normal.. These girls are twins--one having the mutation causing XLH and the other not.. The twin on the left demonstrates the classic signs of bowed legs and slowed growth of a child with XLH, but not all will have the same degree of symptoms.. Specific tests are needed to know what is causing the problem.. XLH is rare, so most doctors will never see it.. If you or your child has been diagnosed with XLH, or if you think your child might have it, you need to find a doctor and facility experienced  ...   these pages is based on biomedical research, published in peer-reviewed journals, and international research conferences.. Additionally, in some cases anecdotal information is provided by subscribers of the F-HYPDRR group, a mailing list for The XLH Network Inc.. A listing of.. XLH research.. is available.. Please read our.. full disclaimer.. Top of Page.. Last modified Oct 18, 2012.. News.. Scientific Advisory Board member wins award at ASBMR.. Michael Econs, XLH Network Scientific Advisory Board Member (SAB), was awarded the Frederic C.. Bartter Award for outstanding clinical investigation in disorders of bone and mineral metabolism at the American Society for Bone and Mineral Research….. XLH Day on CNN.. com.. See the XLH Day Press Release on CNN.. comClick here to read the article.. XLH Network Member raises over $5000 for the XLH Network.. XLH Network members in Mississippi raises over $5,000 for the XLH Network.. The Inman's, whose daughter has XLH, held a fundraiser this past Spring raising over $5000 for the XLH Network.. The fundraiser engaged local business owners, friends, and fam….. New Clinical Study at Yale.. Yale is currently seeking participants for a new study researching the "Use of Nasal Calcitonin to Suppress FGF23 in X-linked Hypophosphatemia".. Please see the flyer below for details.. Stay Connected.. Member Web Space.. Follow us on facebook.. Follow us on twitter.. We comply with the.. HONcode standard.. for trustworthy health information:.. verify here.. Site provided by.. Vibrant Creative..

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  • Title: XLH :: What is XLH?
    Descriptive info: XLH X-Linked Hypophosphatemia - is a genetic disorder that affects about one in 20,000 people.. Typically, it is passed from one generation to the next, but sometimes appears in an individual with no family history of XLH.. XLH is carried on the X chromosome; hence the X-Linked in the name.. Hypophosphatemia means low level of phosphorus in the blood.. Almost all X-linked disorders are recessive, but XLH is one of the few that is in fact dominantly inherited.. XLH is also the most common of the hypophosphatemic rickets disorders.. An XLH person s kidneys do not properly handle vitamin D and phosphorus, but this is not caused by a kidney problem.. Instead, something circulating in the bloodstream causes the kidneys to treat phosphorus as a waste product and not return enough of it to the circulation for use by bones and teeth.. Thus, a kidney transplant would not  ...   called osteomalacia, that is, soft bones.. Vitamin D-Resistant Rickets was the term first used for this disorder because XLH was initially recognized by the ineffectiveness of normal diets to prevent rickets.. In the average person, normal diets and sunlight exposure contain enough Vitamin D to avoid simple rickets, but that doesn t work for people with XLH.. Their condition resists treatment with most forms of Vitamin D, although a more active form of this vitamin hormone is an important part of their treatment.. Today the syndrome is defined more by the root cause of the disorder, based on phosphorus metabolism, rather than on the role played by Vitamin D.. Other Names for XLH.. X-Linked Hypophosphatemia (XLH).. X-Linked Hypophosphatemic Rickets.. Familial Hypophosphatemia or Familial Hypophosphatemic Rickets.. Vitamin D-Resistant Rickets (VDRR).. Genetic Rickets.. Source: The XLH Network.. Last modified Apr 20, 2012.. Effects of Surgical Treatment.. Effect of Medical Treatment..

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  • Title: XLH :: Symptoms of XLH
    Descriptive info: X-Linked Hypophoshpatemia (XLH) is caused by one of several mutations of the PHEX gene, all of which cause XLH.. There.. does not seem to be any correlation.. between the specific mutation and the severity of the symptoms experienced.. Those with XLH generally exhibit the following:.. Abnormal bone and tooth development, which may range from mild or moderate to severe.. Rickets that resists traditional Vitamin D therapy.. A few people with XLH exhibit no bone-related symptoms, and.. a study published in 1994.. notes that it s not uncommon for XLH to go undiagnosed in those with mild to moderate symptoms.. Our experience with XLH Network members is that this continues to happen today.. In fact, we hear from many adults with fairly severe symptoms who, because the disorder is uncommon, were only recently correctly diagnosed as XLH.. Symptoms vary.. It's not uncommon for XLH to not be recognized right away, or to be discounted, and many will recognize their own experience in the following discussion, but primarily the symptoms of XLH may include the following:.. Lower limb deformities (bow or knock-knee).. Waddling gait.. Short stature or declining growth rate.. Spontaneous tooth abscesses.. Bone pain.. Muscle pain and weakness.. The symptoms of XLH tend to appear when a child begins to bear weight on his or her legs.. In a very young  ...   may be a problem with bone development in the head, and the physician should be able to recognize this development called craniosynostosis very quickly when measuring the size of the child's head.. As the child grows older and starts walking, parents may not recognize an abnormality in the child s gait, but relatives or acquaintances who are only in infrequent contact may express concern.. The child's small stature may also be increasingly noticeable compared with his or her peers.. Dental abscesses are a common complaint once teeth erupt because of faulty formation inside the tooth not decay or trauma and some children may feel different degrees of pain in their legs.. Doctors may use the term rickets, when they consider this collection of symptoms in children.. But it's important to know what the cause is for the child's rickets, as successful treatment depends on a correct diagnosis.. Standard vitamin D therapy works well for those who develop rickets due to not getting enough vitamin D in their diet or not getting enough exposure to sunlight, but it would be a waste of time in someone with XLH.. Appropriate testing to rule out phosphate wasting will show whether standard vitamin D therapy would be appropriate, or whether XLH or another disorder is what's actually causing the symptoms.. Last modified Feb 5, 2011..

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  • Title: XLH :: Diagnosis
    Descriptive info: Without a family history of XLH, diagnosis (even when rickets symptoms are recognized) carries its own frustration.. Without experience in this unusual disorder, it is not unheard of for a physician to not even diagnose a child of an XLH parent until much later than it could be, putting bowing off to "bulky diapers" or saying "all toddlers legs are bowed" rather than even x-raying the child for rickets, or comparing the child's blood phosphorus level to an adult reference range since not all labs report the higher ranges seen in normally growing children.. XLH occurs probably in only one birth out of 20,000, so a pediatrician or general practitioner may never see it in his or her career.. Even if he does diagnose the child with rickets, he might not know about XLH and presume it to be due to lack of enough vitamin D and try that first.. However, XLH resists typical Vitamin D therapy, so a patient might then be put through a complete series of tests, X-rays, and consultations with specialists and then might not be diagnosed with XLH until age 3 or 4.. Precious treatment time is lost, so it's important to find a specialist with experience in this area when symptoms are first observed.. This type of specialist is generally an endocrinologist or nephrologist,  ...   realize the child's results are abnormal.. This causes an unnecessary delay in diagnosis.. Specialists who have several XLH patients, however, might diagnose a patient without much difficulty and know.. what tests to run.. to differentiate between the different disorders that cause rickets and osteomalacia.. The earlier the diagnosis, the earlier therapy can begin, and the better the results are likely to be.. There are.. several phosphate wasting disorders.. that cause similar symptoms to XLH, so it's important to know which one the patient has since treatment for one might not be correct for another.. People with.. Autosomal Dominant Hypophosphatemic Rickets.. can have symptoms that differ only in subtle ways from those experienced by people with XLH.. ADHR, as indicated by its name, is another dominantly inherited hypophosphatemic disorder, but it is caused by.. a different gene.. found on a dfferent chromosome than XLH.. Its symptoms can first occur in people of any age, and in some cases its symptoms have even been found to resolve on their own.. And,.. certain very rare tumors.. [known by the names Tumor-Induced Osteomalacia (TIO) and Oncogenic Hypophosphatemic Osteomalacia (OHO)] or rare cases of.. giant nevus sebaceous.. (certain very large birthmarks, which may be related to TIO) may also cause bone problems due to hypophosphatemia.. These disorders are not considered to be hereditary.. Board of Directors..

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  • Title: XLH :: Treating XLH
    Descriptive info: Treatment for XLH comes in two major categories:.. Medication.. Surgical or orthopedic treatment.. Treatment almost always should take place at major research centers because of the rare nature of this disorder, and The XLH Network strongly suggests relying on specialists familiar with the condition and experienced in treating and managing it.. These are most often endocrinologists or nephrologists with an interest in metabolic bone disorders.. Medications used in treating XLH typically an active form of Vitamin D [such as Rocaltrol (Calcitriol) or ONE-ALPHA ] and phosphorus (such as K-PHOS , Neutra-Phos , or PHOSPHATE-SANDOZ ).. should be prescribed very carefully and taken in association with regular monitoring of blood and urine chemistries, including ParaThyroid Hormone  ...   the more you eliminate in the urine, and the higher the PTH may go.. which you will want to avoid.. The medication can result in a variety of important effects on the kidneys that specialists will want to keep under tight control.. Progress is often measured in years, rather than months, so this can be very frustrating for parents and children alike.. And if it s not effective, or diagnosis came very late, surgical or orthopedic intervention may be required.. The XLH Network Inc.. does not prescribe or suggest any particular treatment that should be done by medical professionals and specialists in bone metabolism.. These notes are provided based on the personal experience of members..

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  • Title: XLH :: Frequently Asked Questions
    Descriptive info: QUESTION: What is XLH?.. ANSWER:.. X-chromosome Linked Hypophosphatemia is a genetic metabolic disorder that usually results in bowed or bent legs in growing children.. In XLH, the body's mechanisms to make and maintain bones and teeth do not work correctly.. One of the things needed for good bone growth is the mineral phosphorus.. The key characteristic of XLH -- low phosphorus in the blood, also known as hypophosphatemia -- is the result of a mutation that essentially inactivates one of the genes on the X chromosome.. When this gene, called the PHEX gene, has the XLH mutation, a protein circulating in the bloodstream called FGF23 increases, causing the kidneys to waste phosphorus and suppresses complete activation of vitamin D to a form the body can use.. The loss of phosphate from the kidneys prevents the body from maintaining the proper level of phosphorus in the blood.. Q: Is there a single mutation responsible for XLH?.. A:.. So far, approximately 260 different mutations in a particular section of the X chromosome have been identified for XLH.. An XLH patient might have one of these mutations, or a new one that has not yet been described.. Everyone in the world has about 10 genetic mutations.. Often these mutations have no apparent effect, but sometimes, as in the case of XLH, their effects can be significant.. Here is a database of XLH mutations.. Q: Does XLH affect everyone the same?.. Everyone with XLH has low phosphorus in the blood; but the severity of bone symptoms can vary widely.. Some show phosphorus levels that are not below normal, but at the lower end of normal so it's important in those cases to test in the morning before eating or drinking anything, in order to find that patient's lowest phosphorus level.. Phosphorus rises normally throughout the day, and foods eaten can affect phosphorus levels in the blood as well.. At least 5 percent of people.. with XLH do not show any bone symptoms, and have only low levels of phosphorus in their blood.. A 1994 study by Dr.. Michael Econs showed people with mild to moderate.. symptoms may go undiagnosed.. Q.. How do people get XLH?.. XLH is a genetic disorder.. About one-third of our mailing list subscribers have XLH without any apparent family history, and are considered to be spontaneous cases.. The rest inherited XLH from a parent.. The condition is X-Linked and dominant.. This means that the gene responsible for XLH is on the X chromosome and people with the mutated gene will have XLH.. Men have one X and one Y chromosome, whereas women have two X chromosomes.. Daughters receive the father s X chromosome and one of their mother's X chromosomes.. Sons get their father s Y chromosome and one of their mother s X chromosomes.. Therefore,.. if a man has XLH.. , all his daughters will have it, but none of his sons.. Every child of an.. affected mother.. has a 50-50 chance of inheriting XLH, depending on which X chromosome is passed on.. If the syndrome is present, regardless of whether it is a spontaneous case or inherited from an individual's parents, that individual will have the same likelihood of passing on the condition to their children.. Is XLH curable?.. No.. But it is treatable, and research is ongoing.. The gene that carries the XLH mutation was identified in 1995 but it s still not clear what that gene does.. Current research is focusing on processes and proteins involved in the control of phosphorus levels in the blood.. keeps in contact with the world s leading researchers and stays up to date on the latest developments, but a cure remains years away.. Is XLH treatable?.. Available treatments can help in many, but isn t equally helpful in all cases.. Often, a combination of a particularly active Vitamin D, together with phosphorus supplements, can help  ...   of bone formation and maintenance.. Q: How common is XLH?.. About one person in 20,000 has XLH.. It is a rare disorder, but that s unimportant if you or someone you love is that one person.. That's why The XLH Network, Inc.. is here.. We try to link people so they can share experiences, information and support.. Q: How is XLH diagnosed?.. XLH patients have low phosphorus in the blood, or hypophosphatemia, which can be detected with a simple blood test typically performed in a clinical chemistry laboratory, or in a doctor's office.. However, clinical chemistry laboratories do not always report age-matched phosphorus normals, leading to a misdiagnosis.. Especially if there is no family history, more exhaustive tests wil be needed to rule out other causes of hypophosphatemia and of rickets symptoms.. Generally serum (blood) phosphorus is low, serum calcium is normal, and serum alkaline phosphatase is quite elevated.. Vitamin D levels are also normal, although the activated form is lower than would be expected with a low phosphorus level.. Rickets can often be identified using X-rays, but that alone doesn't tell the physician what caused the rickets.. Lower leg bowing can be obvious.. Additionally, to a trained eye, X-rays can provide clear evidence of what are called rickets lesions, even before the leg begins to bow.. Parents may notice early bowing problems when their child begins to walk.. Increasingly, dental problems, especially numerous spontaneous tooth abscesses and enlarged pulp chambers, are recognized as a common ailment of XLH.. Other possible symptoms are bone pain, as well as muscle pain and weakness although this isn't as common in XLH as in some other causes of rickets.. Q: Is there a genetic test for XLH?.. Yes.. A genetic test for XLH and two other forms of genetic rickets became available in March 2001.. A detailed analysis of the issues involved with genetic testing with specific reference to this genetic test, is available in the Members section.. Q: How do I find a specialist who has experience with XLH?.. Most often an endocrinologist or nephrologist with a special interest in metabolic bone diseases will be the specialist to see.. These specialists are found in major medical centers and teaching hospitals because they will generally be the ones keeping most up-to-date on rare conditions such as XLH.. The XLH Network maintains a limited database of XLH-experienced medical specialists and is always looking for references to others with that specific experience.. Q: Can XLH patients participate in athletic activities?.. Healthy bones and exercise go together.. However, it is important for XLH patients, especially children, to be under the care of a medical professional who can monitor bone growth, maintain medication, and advise on the appropriateness of any particular exercise.. Q: Are there dental problems associated with XLH?.. Problems with the formation of teeth can result in dental abscesses, not because of poor dental hygiene, but because of improper formation of dentin and other tooth structures.. Like bone problems, dental problems also vary from patient to patient.. Information on dental issues associated with XLH is available in the Members section.. Q: Has research been done using Human Growth Hormone for XLH patients?.. Medical researchers have studied Human Growth Hormone as a way to increase stature of XLH patients during their growth years, and some of the reports are linked in our listing of XLH Research Citations.. While there have been encouraging results with some patients, there does not yet exist a medical consensus for this treatment option for XLH.. Details are available in the Members section.. Q: Has hearing loss been associated with XLH?.. Some XLH patients have hearing loss that progressively increases over time.. The severity and frequency of hearing problems vary from patient to patient.. Because so many variables can play a part, it is often difficult to attribute specific hearing loss to XLH.. Last modified May 4, 2011..

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  • Title: XLH :: Patient Registry
    Descriptive info: The XLH Network endorses two registries and encourages the participation of the XLH affected community.. The Yale Registry is specific to XLH and Yale researchers.. Coordination of Rare Diseases at Sanford (CoRDS) is a registry for rare diseases and can be used, with approval, by researchers nationwide.. Information for both registries is shown below.. Yale Center for XLH Registry.. The Yale Center for XLH has launched an International Patient Registry.. The purpose, goals and contact information are specified in the flyer which can be viewed by clicking on the link below.. To go to the official Yale Registry site click.. here.. Yale XLH Patient Registry.. Coordination of Rare Diseases at Sanford (CoRDS) Registry.. Many organizations that advocate for patients with rare diseases cannot afford to host their own patient registry.. Sanford Research provides a secure registry database to organizations such as the XLH Network in an attempt to ensure that researchers interested in studying specific rare diseases can access the patient information necessary to conduct their research.. Sanford Research is committed to finding cures and advancing therapies into rare diseases.. To further this  ...   rare diseases which may help develop effective treatments.. Research into rare diseases is often limited by lack of information and the relatively small number of participants eligible for clinical trials or research studies.. Establishing a central registry of individuals with confirmed diagnoses of any rare diseases is an innovative way to accelerate rare disease research.. Researchers nationwide with the appropriate approval can have access to de-identified clinical information from the CoRDS registry that may be helpful to their research.. Individuals enrolled in CoRDS will be informed of clinical trials and research studies for which they may be eligible.. Goal.. To collaborate efforts with rare disease patient advocacy organizations, healthcare providers, researchers, and individuals to create a central resource that connects scientists conducting research studies with individuals interested in participating in the clinical trial or research study.. Please review the.. CoRDS Brochure.. and see the.. FAQ page.. to learn how you can join the CoRDS initiative.. Have Questions? Please Contact:.. Liz Donohue.. Director, Coordination of Rare Diseases at Sanford.. Sanford Research.. 2301 E 60th Street North.. Sioux Falls, SD 57104.. Last modified Jul 2, 2012..

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  • Title: XLH :: Clinical Trials
    Descriptive info: Use of Nasal Calcitonin to Supress FGF23 in X-linked Hypophosphatemia.. Yale is currently seeking participants for a new study researching the "Use of Nasal Calcitonin to Supress FGF23 in X-linked Hypophosphatemia".. In case this is hard to read the contacts are:.. Rebecca Sullivan (203)-737-1656.. Jessica Bihuniak (203)-785-2602.. Kirin Trial.. A clinical trial is being conducted at several research centers to determine if an investigational agent from Kyowa Hakko Kirin Pharma, Inc.. improves the health of adult patients by alleviating the complications associated with XLH.. Eligible participants will be provided study treatment at no charge and may receive compensation for their involvement.. To be eligible for this study you must:.. Be at least 18 years of age;.. Have been diagnosed with XLH; and.. Agree not to change diet or exercise routine for the duration of the study.. Phase I is a double-blind, randomized, placebo-controlled, single-dose, dose-escalation study of KRN23 in X-linked Hypophosphatemia.. This first phase is intended to assess the safety and tolerability of KRN23 after a single intravenous or subcutaneous administration in XLH patients.. Phase II is a non-randomized, open-label study intended to assess the safety and efficacy of repeated doses of KRN23 administered subcutaneously in adult  ...   Contact: Rebecca Sullivan, MS, RD 203-737-1656 becky.. sullivan@yale.. Principal Investigator: Thomas O.. Carpenter, M.. D.. United States, Indiana.. Clinical Research Center, Indiana University School of Medicine.. Indianapolis, Indiana, United States, 46202-5250.. Contact: Connie Sullivan, RN, CCRC 317-944-8431 csulliv1@iupui.. Principal Investigator: Munro Peacock, MB.. United States, North Carolina.. Duke Clinical Research Unit.. Durham, North Carolina, United States, 27710.. Contact: Margaret Stewart, RN 919-668-0186 margaret.. a.. stewart@duke.. Principal Investigator: Thomas J.. Weber, MD.. United States, Texas.. University of Texas Health Science Center at Houston.. Houston, Texas, United States, 77030.. Contact: Mary D.. Ruppe, MD 713-500-6901 Mary.. Ruppe@uth.. tmc.. Principal Investigator: Mary D.. Ruppe, MD.. Canada, Quebec.. Shriners Hospital for Children - Canada.. 1529 Cedar, Montréal, Quebec, Canada, H3G 1A6.. Contact: Michaela Durigova, PhD 514-282-7158 mdurigova@shriners.. mcgill.. ca.. Principal Investigator: Francis H.. Glorieux, OC, MD, PhD.. You can also find information about this clinical trial by going to.. http://www.. clinicaltrials.. gov/.. and searching for "KRN23".. Before deciding to participate in a research study, you may want to go to http://www.. gov/ and read "Understanding Clinical Trials".. As always it is a good idea to confer with your doctor and/or health care professionals before entering a trial.. Last modified Jul 5, 2012..

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  • Title: XLH :: Medical Professionals
    Descriptive info: For Medical Professionals and Advanced Understanding.. The XLH Network keeps a contact database of medical professionals having experience with XLH.. It s available, confidentially, to members based on location.. If you would like to add your name to our contact database as a professional with experience treating people with XLH, please fill out our online.. information form.. Contact  ...   us to facilitate introductions or provide contact information for consultations or discussion.. A number of researchers and clinicians with an interest in XLH are members of The XLH Network Inc.. If you would like to join our organization, you can.. apply online.. Fill out our Medical Professional Form.. 2010, The XLH Network Inc.. Last modified Jan 25, 2011..

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  • Title: XLH :: Information on XLH
    Descriptive info: A number of sources keep updated information on XLH:.. Online Mendelian Inheritance in Man Database.. eMedicine by Medscape.. The Merck Manual.. PHEX Locus Database.. In addition, The XLH Network keeps in contact with leaders in research and treatment of X-Linked Hypophosphatemia.. You can contact us for information on how to contact them..

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  • Title: XLH :: Diagnosis
    Descriptive info: XLH is a genetic disorder of bone metabolism, expressed in varying degrees in terms of bone involvement.. It always manifests in abnormally low serum inorganic phosphorus levels, as first documented by Winters et al in 1958 based on extensive family studies in the Carolinas.. The XLH Network keeps in contact with leaders in research and treatment of XLH.. Physicians who don't have experience in diagnosing or managing XLH can.. contact us.. for help in finding an expert to consult.. In principle, diagnosing an infant or toddler when there is a known family history of XLH should be straightforward, but even then the diagnosis has often been misconstrued, even by experts.. In too many cases, it appears the diagnostician mistakes general population normal values for serum inorganic phosphorus for actual age-matched normal values.. If the lab report states the reference range.. to be 2.. 5-4.. 5 mg/dl, that range is normal only for adults.. It is also important to consider normal variations in serum phosphorus throughout the day, as well as what foods have been eaten prior to testing.. If the diagnosis isn't as straight forward, then testing may show the following results:.. X-ray evidence of rickets (not seen in all children).. Low serum phosphorus, as compared with age-matched normals.. Normal serum calcium.. Elevated alkaline phosphatase levels in children (perhaps not in adults).. Phosphorus wasting in the urine (low TMP/GFR).. Normal vitamin D (25-OHD) level.. Inappropriately normal bioactivatsed vitamin D (1,25(OH)2D3) level.. Parathyroid hormone may be normal or moderately elevated.. Sample reference ranges for phosphorus by age:.. Source: PEDIATRIC REFERENCE RANGES, 3rd edition, by Steven J.. Soldin, published by AACC Press, Washington, DC, 1999 pages 145-146.. PHOSPHORUS.. Male.. Female.. Test.. Age.. n.. mg/dL.. mmol/L.. 1.. 1-30d.. 62.. 3.. 9-6.. 9.. 25-2.. 25.. 66.. 4.. 3-7.. 7.. 40-2.. 50.. 31-365d.. 83.. 5-6.. 6.. 15-2.. 15.. 7-6.. 5.. 20-2.. 10.. 1-3y.. 126.. 1-6.. 0.. 00-1.. 95.. 119.. 4-6..  ...   Ektachem 700 analyzer.. Chem 1988;34:1622-5.. Soldin SJ, Hunt C, Hicks JM.. Pediatric reference ranges for Phosphorus on the Vitros 500 Analyzer.. Clin Chem 1999;45:A22 (Abstract).. Method:.. Hitachi 747 using ammonium molybdate method (Boehringer-Mannheim, Diagnostics, Indianapolis, IN).. Ektachem 700 (2) and 500 (3) using ammonium molybdate method (Johnson Johnson, Rochester, NY).. Comments:.. Study used hospitalized patients and a computerized approach to removing outliers.. Values are 2.. 5 - 97.. 5th percentiles.. Study used normal healthy children.. (In this table, n is the number of subjects assessed in each age category.. ).. In comparing phosphorus levels to the charts below, it may be necessary to make a conversion.. To convert mg/dL to/from mmol/L, SIGMA provides an inorganic phosphorus reference standard:.. 20mcg per ml equivalent to 645 nanomoles per ml.. Since a deciLitre is 100 ml, this is the same as saying:.. 2000mcg/dL or 2mg/dL or 645 mcmoles/L or 0.. 645mmol/L.. Therefore, 1mg/dL is the same as 0.. 322 mmol/L.. Source: XLH Network mailing list, February, 2000, reference ranges from a laboratory in the USA.. Patient Age.. Inorganic Phosphorus Normals.. Less than 6 days.. 0-9.. 0 mg/dL.. 6 days-2 years.. 0-8.. 2 years-12 years.. 12 years-64 years.. 9 mg/dL.. Over 64 years.. 1-4.. 3 mg/dL.. Source:.. Medical School, University of Iowa, Pathology Handbook.. Phosphorus Normals.. Newborn.. 2-9.. 1 year.. 8-6.. 2 mg/dL.. 2-5 years.. 8 mg/dL.. References.. X-linked hypophosphatemic rickets: a disease often unknown to affected patients.. 1994.. Michael J.. Econs, Gregory P.. Samsa, Michael Monger, Marc K.. Drezner, John R.. Feussner.. Bone and Mineral 24:17-24.. PubMed ID:.. 8186731.. New perspectives on the biology and treatment of X-Linked Hypophosphatemic rickets.. Carpenter, Thomas O.. ; Pediatric Clinics of North America 44(2): 443-466 (1997).. 9130929.. Diagnosis of X-linked hypophosphatemic vitamin D resistant rickets.. Yamamoto T.. ; Acta Paediatr Jpn.. 1997 Aug;39(4):499-502.. 9316300.. Hypophosphatemic rickets: still misdiagnosed and inadequately treated.. Greene WB, Kahler SG.. ; South Med J.. 1985 Oct;78(10):1179-84.. 2996152..

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