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XLH Abstracts Compiled by: Scott Schmitz This abstract collection is organized by general catagory of research and within that catagory by date of publication. XLH is a topic of intense research and numerous abstracts have been published. We have not attempted to provide a complete collection of abstracts, instead it is our goal toto provide a reasonable cross-section of abstracts which have been published with emphasis on recently published material. General =================================================== Winger L. Shulman DI, Hahn G, Benator R, Washington K, White KE, Farber
J, Econs MJ. Brame LA, White KE, Econs MJ. Qiu ZQ, Travers R, Rauch F, Glorieux FH, Scriver CR, Tenenhouse
HS. Lin R, Amizuka N, Sasaki T, Aarts MM, Ozawa H, Goltzman D, Henderson
JE, White JH. Linda A. DiMeglio, Kenneth E. White, and Michael J. Econs.Disorders of phosphate metabolism. In Hormones and Disorders of Mineral Metabolism. 2000. Endocrinology and Metabolism Clinics of North America. 29:591-609. Michael J. Econs. Rickets secondary to phosphate wasting. 1999. Education Article: Diagnostic Endocrinology, Immunology, and Metabolism 17:175-183. © American Association for Clinical Chemistry. Nehgme R, Fahey JT, Smith C, Carpenter; Cardiovascular abnormalities in patients with X-linked hypophosphatemia. J Clin Endocrinol Metab. 1997 Aug;82(8):2450-4. PMID: 9253316 Eddy MC, McAlister WH, Whyte MP. Econs MJ, McEnery PT. Berndt M, Ehrich JH, Lazovic D, Zimmermann J, Hillmann G, Kayser
C, Prokop M, Schirg E, Siegert B, Wolff G, Brodehl J. Whyte MP, Schranck FW, Armamento-Villareal R. Econs MJ, Samsa GP, Monger M, Drezner MK, Feussner JR. Mouin G. Seikaly, Richard H. Browne and Michael Baum.The effect of phosphate supplementation on linear growth in children with X-linked hypophosphatemia. 1994. Pediatrics 94:478-481. Z. Q. Qiu, H. S. Tenenhouse and C. R. Scriver. Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp mice. 1993. Genet. Res. Camb. 62:39-43. Petersen DJ, Boniface AM, Schranck FW, Rupich RC, Whyte MP. Charles R. Scriver, Harriet S. Tenenhouse and Francis H. Glorieux. X-Linked hypophosphatemia: an appreciation of a classic paper and a survey of progress since 1958. Commentary/Classics in Medicine. 1991. Medicine 70:218-228. Reid IR, Murphy WA, Hardy DC, Teitelbaum SL, Bergfeld MA, Whyte
MP. Reid IR, Hardy DC, Murphy WA, Teitelbaum SL, Bergfeld MA, Whyte
MP. Hardy DC, Murphy WA, Siegel BA, Reid IR, Whyte MP. Carpenter, Thomas O.; New perspectives on the biology and treatment of X-Linked Hypophosphatemic rickets.; Pediatric Clinics of North America 44(2): 443-466 (1997) PubMed ID: 9130929 McAlister WH, Kim GS, Whyte MP. Robert W. Winters, John B. Graham, T. Franklin Williams, Vernon W. McFalls and Charles H. Burnett. A genetic study of familial hypophosphatemia and Vitamin D resistant rickets with a review of the literature. 1958. Medicine:37:97-142. * * * *
Baroncelli GI, Bertelloni S, Ceccarelli
C, Saggese G. Effect of growth hormone treatment on final height,
phosphate metabolism, and bone mineral density in children with
X-linked hypophosphatemic rickets. J Pediatr. 2001 Feb;138(2):236-43. Wilson DM.
Cameron FJ, Sochett EB, Daneman A,
Kooh SW.; A trial of growth hormone therapy in well-controlled
hypophosphataemic rickets. Clin Endocrinol (Oxf). 1999 May;50(5):577-82.
Seikaly MG, Brown R, Baum M. The
effect of recombinant human growth hormone in children with X-linked
hypophosphatemia. Reusz GS, Miltenyi G, Stubnya G, Szabo A, Horvath C, Byrd DJ,
Peter F, Tulassay T.; X-linked hypophosphatemia: effects
of treatment with recombinant human growth hormone.
Patel L, Clayton PE, Brain C, Pelekouda E,
Addison GM, Price DA, Mughal MZ.; Acute biochemical effects
of growth hormone treatment compared with conventional treatment
in familial hypophosphataemic rickets. Clin Endocrinol (Oxf).
1996 Jun;44(6):687-96.
Saggese G, Baroncelli GI, Bertelloni
S, Perri G.; Long-term growth hormone treatment in children
with renal hypophosphatemic rickets: effects on growth, mineral
metabolism, and bone density. J Pediatr. 1995 Sep;127(3):395-402.
Wilson DM, Lee PD, Morris AH, Reiter
EO, Gertner JM, Marcus R, Quarmby VE, Rosenfeld RG.; Growth
hormone therapy in hypophosphatemic rickets. Am J Dis Child.
1991 Oct;145(10):1165-70. An article on Growth Hormone and XLH is available in our members Web Space. * * * *
Kitamura K, Takahashi K, Tamagawa Y, Noguchi Y, Kuroishikawa Y, Ishikawa K, Hagiwara H.; Deafness genes. J Med Dent Sci. 2000 Mar;47(1):1-11. PMID: 12162522
Meisler M.; Mutation watch:
PEX PLUS? Gene(s) for X-linked hypophosphatemia and deafness.
Boneh A, Reade TM, Scriver CR, Rishikof E; Audiometric evidence
for two forms of X-linked hypophosphatemia in humans, apparent
counterparts of Hyp and Gy mutations in mouse. Meister M, Johnson A, Popelka GR, Kim GS, Whyte MP. Davies M, Kane R, Valentine J.; Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia. Ann Intern Med. 1984 Feb;100(2):230-2.; PMID: 6691666
Brookes GB.; Vitamin D deficiency--a new cause of cochlear
deafness. Stamp TCB, Baker LRI. Recessive hypophosphataemic rickets, and possible aetiology of the "vitamin D-resistant" syndrome. Arch Dis Child 1976; 51:360-5. * * * *
Carpenter TO. Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi
Y, Yamamoto T, Hampson G, Koshiyama H, Ljunggren O, Oba K, Yang
IM, Miyauchi A, Econs MJ, Lavigne J, Juppner H. Zoidis E, Gosteli-Peter M, Ghirlanda-Keller C, Meinel L, Zapf
J, Schmid C. Christie PT, Harding B, Nesbit MA, Whyte MP, Thakker RV. Rong Guo, Shiguang Liu, Robert F. Spurney and L. D. Quarles. Analysis of recombinant Phex: an endopeptidase in search of a substrate. 2001. Am. J. Physiol, Endocrinol. Metab. 281:E837-E847. Yves Sabbagh, Guy Boileau, Luc DesGroseillers and Harriet S. Tenenhouse.Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein. 2001. 2001. Human Molecular Genetics 10:1539-1546. Guy Boileau, Harriet S. Tenenhouse, Luc DesGroseillers and Philippe Crine.Characterization of PHEX endopeptidase catalytic activity: identification of parathyroid-hormone-related peptide 107-139 as a substrate and osteocalcin, PPi and phosphate as inhibitors. 2001. Biochem J. 355:707-713. X. Li, W. Gu, G. Masinde, M. Hamilton-Ulland, C. H. Rundle, S. Mohan and D. J. Baylink.Genetic variation in bone-regenerative capacity among inbred strains of mice. 2001. Bone 29:134-140. Marc K. Drezner.PHEX gene and hypophosphatemia. 2000. Kidney International. 57:9-18. Miyamura T, Tanaka H, Inoue M, Ichinose Y, Seino Y. Michael J. Econs and Tim M. Strom.The molecular basis of hypophosphatemic rickets. 2000. pp39-55. In: Molecular and Cellular Pediatric Endocrinology, Ed. S. Handwerger. Human Press, Totowa, NJ. Takako Miyamura, Hiroyuki Tanaka, Masaru Inoue, Youjirou Ichinose and Yoshiki Seino.The effects of bone marrow transplantation on X-linked hypophosphatemic mice. 2000. J. Bone Mineral Res. 15:1451-1458. Yves Sabbagh, Andrew O. Jones and Harriet S. Tenenhouse. PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. 2000. Human Mutation 16:1-6. T.D. Blydt-Hansen, H. S. Tenenhouse and P. Goodyer. PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia. 1999. Ped. Nephrol. 13:607-611. Denis Filisette, Georg Ostermann, Moritz von Bredow, Tim Strom, Guido Filler, Johen Ehrich, Solange Pannetier, Jean-Marie Garnier, Peter Rowe, Fiona Francis, Annick Julienne, André Hanauer, Michael J. Econs and Claudine Oudet. Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. 1999. Eur. J. Human Genetics 7:615-619. Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner
JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D,
Whyte MP, Thakker RV. Peter S. N. Rowe, Claudine L. Oudet, Fiona Francis, Christiane Sinding, Solange Pannetier, Mike J. Econs, Tim M. Strom, Thomas Meitinger, Michele Garabedian, Albert David, Marie-Alice Macher, Elisabeth Questiaux, Ewa Popowska, Ewa Pronicka, Andrew P. Read, Agnes Mokrzycki, Francis H. Glorieux, Marc K. Drezner, Andre Hanauer, Hans Lehrach, Johnathan N. Goulding and Jeffrey L. H. O'Riordan.Distribution of mutations in the PEX gene in families with X-linked hypophosphatemic rickets (HYP). 1997. Human Molecular Genetics 6:539-549. Tim M. Strom, Fiona Francis, Bettina Lorenz, Annett Bödrich, Michael J. Econs, Hans Lehrach and Thomas Meitinger. PEX gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. 1997. Human Molecular Genetics 6:165-171. Daniel Lajeunesse, R. A. Meyers and L. Hamel.Direct demonstration of a humorally-mediated inhibition of renal phosphate transport in the Hyp mouse. 1996. Kidney International 50:1531-1538. The HYP consortium. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. 1995. Nature Genetics 11:130-136. B. Eyskens, W. Proesmans, B. Van Damme, L. Lateur, R. Bouillon and M. Hoogmartens.Tumour-induced rickets: a case report and review of the literature. 1995. Eur. J. Pediatrics 154:462-468. Peter S. N. Rowe. Molecular biology of hypophosphatemic rickets and oncogenic osteomalacia. 1994. Human Genetics 94:457-467. Howard Rasmussen and Harriet S. Tenenhouse. Mendelian hypophosphatemias. 1994. Chapter 124, pp 3717-3745. [ ] Brault BA, Meyer MH, Meyer RA Jr, Iorio RJ. Eicher EM, Southard JL, Scriver CR, Glorieux FH. We also have a summary on some of the latest published PHEX XLH research on our public web site. * * * * Makitie O, Kooh SW, Sochett E. Alon US, Monzavi R, Lilien M, Rasoulpour M, Geffner ME, Yadin
O. "Effect of long-term treatment with acid phosphate
on the development of nephrocalcinosis in familial hypophosphatemic
rickets
(XLH)", Seikaly MG, Baum M. Moltz KC, Friedman AH, Nehgme RA, Kleinman CS, Carpenter TO. Seikaly MG, Quigley R, Baum M. Ono T, Seino Y. Seikaly M, Browne R, Baum M. Berndt M, Ehrich JH, Lazovic D, Zimmermann J, Hillmann G, Kayser
C, Prokop M, Schirg E, Siegert B, Wolff G, Brodehl J. Reusz GS. Carpenter TO, Mitnick MA, Ellison A, Smith C, Insogna KL. Alon U, Lovell HB, Donaldson DL.
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Chaussain-Miller C, Sinding C, Wolikow M, Lasfargues JJ, Godeau
G, Garabedian M.
Shroff DV, McWhorter AG, Seale NS.
Familial hypophosphatemic vitamin D-resistant
rickets: dental findings and histologic study of teeth.
Pex mRNA is localized in developing mouse
osteoblasts and odontoblasts. Resnick D.
Orthodontic treatment of a patient
with hypophosphatemic vitamin D-resistant rickets.
Protein cDNA cloning of the murine
Pex gene implicated in X-linked hypophosphatemia and evidence
for expression in bone.
Mineral content of different areas of
human dentin in hypophosphataemic vitamin D-resistant rickets
The effect of medical therapy on dentin
formation in vitamin D-resistant rickets
Oral manifestations of familial hypophosphatemic
rickets after phosphate supplement therapy: a review of the literature
and report of case
Prevalence of dental abscess in a
population of children with vitamin D-resistant rickets.
Familial hypophosphatemic vitamin D-resistant
rickets: review of the literature and report of case.
X-linked Hypophosphatemia: The Mutant
Gene Is Expressed in Teeth as Well as in Kidney
Structural deformities of deciduous teeth
in patients with hypophosphatemic vitamin D-resistant rickets.
Oral findings in patients with autosomal
dominant hypophosphatemic bone disease and X-linked hypophosphatemia:
Further evidence that they are different diseases;
Prophylactic dental treatment for a patient
with vitamin D-resistant rickets: report of case.
Management of the primary dentition in
vitamin D-resistant rickets An article on dental issues related to XLH is available in our members Web Space. * * * * Deformity correction of knee and leg lengthening by Ilizarov method
in hypophosphatemic rickets: outcomes and significance of serum
phosphate level. Stanitski DF. Tsuchiya H, Uehara K, Abdel-Wanis ME, Sakurakichi K, Kabata T,
Tomita K.
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Dudkiewicz I, Schindler A, Ganel A. Choi IH, Kim JK, Chung CY, Cho TJ, Lee SH, Suh SW, Whang KS, Park
HW, Song KS. Baroncelli GI, Bertelloni S, Saggese G. Prinster C, Weber G, Beccio S, Meneghel M, Mora S, Chiumello G. Rohmiller MT, Tylkowski C, Kriss VM, Mier RJ. Matsushita T, Nakamura K, Okazaki H, Kurokawa T. Kanel JS, Price CT. Eyres KS, Brown J, Douglas DL. Stone MM. * * * *
Soehle M, Casey AT. Dunlop DJ, Stirling AJ. Ballantyne ES, Findlay GF. Yamamoto Y, Onofrio BM. Matsui H, Katoh Y, Tsuji H. Bradbury PG, Brenton DP, Stern GM. Cartwright DW, Latham SC, Masel JP, Yelland JD.
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Gardezi SA, Nguyen C, Malloy PJ, Posner GH, Feldman D, Peleg S. Thomas O. Carpenter, Marc Keller, Dana Schwartz, Maryann Mitnick, Cynthia Smith, Alice Ellison, Dennis Carey, Florence Comite, Ronald Horst, Rose Travers, Francis H. Glorieux, Caren M. Gundberg, A. Robin Poole and Karl L. Insogna. 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets -- a clinical research center study. 1996. J. Clin. Endocrinol. Metab. 81:2381-2388. * * * * Eye Problems Caldemeyer KS, Smith RR, Edwards-Brown MK.
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Kuether TA, Piatt JH. Caldemeyer KS, Boaz JC, Wappner RS, Moran CC, Smith RR, Quets
JP. Last modified Aug 8, 2007 XLH is also known as X-Linked Hypophosphatemia (sometimes also spelled as hypophosphataemia), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets (VDRR) Rickets and even Genetic Rickets. Its notable characteristics are bowed legs, short stature, poor teeth formation causing spotaneous dental abscesses, and low blood phosphorus levels.
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