A girl with rickets and nephrocalcinosis

Pediatric Nephrology

Volumn 18, Issue 6, 2003, Pages 573-575

  Godefroid, Nathalie ^a   Proesmans, Willem ^b  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Hypercalciuria; Nephrocalcinosis; Rickets

Indexed keywords

CALCITRIOL; CALCIUM; PARATHYROID HORMONE; PHOSPHATE; PROTEIN; VITAMIN D;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BONE RADIOGRAPHY; CASE REPORT; CHILD GROWTH; CLINICAL EXAMINATION; ECHOGRAPHY; FEMALE; GLOMERULUS FILTRATION RATE; HUMAN; HYPERCALCIURIA; INHERITANCE; KIDNEY CALCIFICATION; KIDNEY TUBULE DISORDER; PHOSPHATE METABOLISM; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; RICKETS; SHORT STATURE; TREATMENT OUTCOME; URINALYSIS;

EID: 0037484232     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-003-1140-2     Document Type: Article

References (12)

1. Bowe AE, Finnegan R, Jan de Beur SM, Cho J, Levine MA, Kumar R, Schiavi SC (2001) FGF23 inhibits renal tubular phosphate transport and is a phex substrate. Biochem Biophys Res Commun 284:977-981
2. Econs MJ, Mc Enery PT (1997) Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate wasting disorder. J Clin Endocrinol Metab 82:674-681
3. ADHR Consortium (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 26:345-348
4. Tieder M, Modai D, Samuel R, Arie R, Halabe A, Bab I, Gabizon D, Liberman A (1985) Hereditary hypophoshatemic rickets with hypercalciuria. N Engl J Med 312:611-617
5. Jones A, Tzenova J, Frappier D, Crumley M, Roslin N, Kos C, Tieder M, Langman C, Proesmans W, Carpenter T, Rice A, Anderson D, Morgan K, Fujiwara T, Tenenhouse H (2001) Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. J Am Soc Nephrol 12:507-514
6. Van den Heuvel L, Op de Koul K, Knots E, Knoers N, Monnens L (2001) Autosomal recessive hypophosphatemic rickets with hypercalciuria is not caused by mutations of the type II renal sodium/phosphate cotransporter gene. Nephrol Dial Transpl 16:48-51
7. Proesmans W, Fabry G, Marchal J, Gillis PL, Bouillon R (1987) Autosomal dominant hypophosphatemia with elevated serum 1,25 dihydroxy vitamin D and hypercalciuria. Pediatr Nephrol 1:479-484
8. Wrong OM, Norden AG, Feest TG (1994) Dent's disease: a familial proximal renal tubular syndrome with low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. QJM 87:473-493
9. Thakker RV (2000) Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. Kidney Int 57:787-793
10. Wang SS, Devuyst O, Courtoy PJ, Wang XT, Wang Y, Thakker RV, Guggino S, Guggino WB (2000) Mice lacking renal chloride channel ClC-5 are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum Mol Genet 12:2937-2945
11. Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G (1993) Genetic mapping in the Xp 11.2 region of a new form of X-linked hypophosphatemic rickets. Eur J Hum Genet 1:269-279
12. Oudet C, Martin-Coignard D, Pannetier S, Praud E, Champion G, Hanauer A (1997) A second family with XLRH displays the mutation S244L in the CLCN5 gene. Hum Genet 99:781-784