Early onset of chronic renal failure in infantile nephropathic cystinosis.
نویسندگان
چکیده
INDIAN PEDIATRICS 1172 VOLUME 41NOVEMBER 17, 2004 A 1-year-ten-month-old girl, first issue of a non-consanguineous marriage was referred to us for further care. The child was born full term, with birth weight of 3.5 kg. She was noticed to have polyuria, polydipsia, photophobia and failure to thrive from 6 months of age. On evaluation, she was detected to have renal insufficiency at the age of 9 months (blood urea 93.5 mg/dL, serum creatinine 2.1 mg/dL). Renal ultrasound was normal and slit lamp examination of the eyes was suggestive of cystinosis. The patient was started on conservative management of chronic renal failure.
منابع مشابه
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. There are three different forms: infantile nephropathic cystinosis, which is the most common form, juvenile nephropatic, and non-nephropathic cysti...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 41 11 شماره
صفحات -
تاریخ انتشار 2004