title: Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis.
abstract: Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder. We describe the clinical features in a four and a half-year-old Indian boy with infantile nephropathic cystinosis that presented with the incomplete Fanconi syndrome, hydro-uretero-nephrosis with megacystis, and hypothyroidism.
authors.affiliation: Division of Pediatric Nephrology, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai, Maharashtra, India.
authors.forename: Vaishali
authors.initials: V
authors.lastname: More
authors.affiliation: Division of Pediatric Nephrology, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai, Maharashtra, India.
authors.forename: Preeti
authors.initials: P
authors.lastname: Shanbag
mesh_terms: D002675:Child, Preschool; D003554:Cystinosis; D004386:Duodenum / Q000002:abnormalities*; D005198:Fanconi Syndrome; D005315:Fetal Diseases; D006801:Humans; D007037:Hypothyroidism; D008297:Male; D009401:Nephrosis; D001743:Urinary Bladder / Q000002:abnormalities*