Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal
cystine/proton symporter termed cystinosin. It is the most common cause of inherited …

Background Five children from two consanguineous families presented with epilepsy
beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing …

Background Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic
overproduction of oxalate that leads to kidney stones, nephrocalcinosis, kidney failure, and …

Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal
transport of cystine, is the most common inherited cause of renal Fanconi syndrome. The …

Background X-linked hypophosphatemia is characterized by increased secretion of fibroblast
growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently rickets, …

The aetiology of stones in children differs from that in adults. Young children, especially boys,
are prone to infective stones, although this type of calculi is decreasing in frequency over …

Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized
by lysosomal cystine accumulation throughout the body that commonly presents in infancy …

Autosomal dominant polycystic kidney disease (ADPKD) caused by mutations in PKD1 is
significantly more severe than PKD2. Typically, ADPKD presents in adulthood but is rarely …

Familial glomerulocystic kidney disease (GCKD) is a dominantly inherited condition
characterized by glomerular cysts and variable renal size and function; the molecular genetic …

Mutations in hepatocyte nuclear factor 1B (HNF1B), which is a transcription factor expressed
in tissues including renal epithelia, associate with abnormal renal development. While …