Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation

Hormone Research

Volumn 55, Issue 6, 2001, Pages 305-308

  Kruse, Klaus ^a,d   Woelfel, Dieter ^b   Strom, Tim M ^c  

^a UNIVERSITY OF LÜBECK   (Germany)

^b Department of Pediatrics ^*  (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

Autosomal dominant hypophosphatemic rickets; Fibroblast growth factor 23; Phosphate regulating gene; Renal phosphate wasting; X linked hypophosphatemic rickets

Indexed keywords

CALCITRIOL; PHOSPHATE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DOSE RESPONSE; DOSE TIME EFFECT RELATION; FEMALE; HUMAN; HYPOPHOSPHATEMIA; LABORATORY TEST; MUTATION; PATIENT COMPLIANCE; PHOSPHATE METABOLISM; PRIORITY JOURNAL; RADIODIAGNOSIS; RICKETS; SCHOOL CHILD;

ADMINISTRATION, ORAL; AGING; CALCITRIOL; CALCIUM CHANNEL AGONISTS; CHILD; FEMALE; FIBROBLAST GROWTH FACTORS; GENES, DOMINANT; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; KIDNEY; MUTATION; PEDIGREE; PHOSPHATES;

EID: 0035703765     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000050018     Document Type: Article

References (12)

1. A genetic study of familial hypophosphatemia and vitamin D-resistant rickets with a review of the literature
2. Hereditary hypophosphatemic rickets with hypercalciuria
3. Hypophosphatemic nonrachitic bone disease: An entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance
4. Familial hypophosphatemic rickets showing autosomal dominant inheritance
5. Rachitisme hypophosphatémique autosomique type scriver: Une observation familiale
6. Autosomal dominant hypophosphatemic rickets/osteomalacia: Clinical characterization of a novel renal phosphate-wasting disorder
7. Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease
8. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets
9. Autosomal dominant hy-pophosphataemic rickets is associated with mutations in FGF23
10. Calcium metabolism and growth during early treatment of children with X-linked hypophosphatemic rickets
11. Localization of a renal sodium phosphate cotransporter gene to human chromosome 5q35
12. Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13