[Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children].
A brother and a sister are reported, demonstrating the severe form of childhood idiopathic hypercalciuria associated with dwarfism, renal defects and bone lesions (rickets and osteoporosis). The family are Israeli Beduins from a small village with a highly inbred population. The parents who are first cousins, and the remaining 6 siblings are not affected. This suggests an autosomal recessive form of transmission for the trait.
D000141:Acidosis, Renal Tubular / Q000235:genetics; D000328:Adult; D002118:Calcium / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006030:Glycosuria, Renal / Q000235:genetics; D006801:Humans; D007223:Infant; D007668:Kidney / Q000503:physiopathology; D007674:Kidney Diseases / Q000150:complications; D008297:Male; D010024:Osteoporosis / Q000235:genetics*; D011507:Proteinuria / Q000235:genetics; D012279:Rickets / Q000235:genetics*
D002118:Calcium
Forme familiale d'hypercalciurie idiopathique avec nanisme, atteinte osseuse et rénale chez l'enfant.