Improvement in the Renal Prognosis in Nephropathic Cystinosis
نویسندگان
چکیده
منابع مشابه
Improving the prognosis of nephropathic cystinosis
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by generalized proximal tubular dysfunction known as renal Fanconi syndrome and causes end-stage renal disease by the age of about 10 years if left untreated. Extrarenal organs are also affected, including the thyroid gland, gonads, pancreas, liver, muscle, and brain. Treatment consists of administrati...
متن کاملThe incidence of atubular glomeruli in nephropathic cystinosis renal biopsies.
Nephropathic cystinosis results from lysosomal cystine storage and, if untreated with cysteamine, results in end-stage renal disease by 10 years of age. The renal Fanconi syndrome occurs in the first year of life and is accompanied by a characteristic "swan neck" deformity of the proximal renal tubule. The linkage between cystine storage, Fanconi syndrome, and renal failure has not been underst...
متن کاملEarly onset of chronic renal failure in infantile nephropathic cystinosis.
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...
متن کاملCorneal thickness in nephropathic cystinosis.
Cystinosis is a rare autosomal recessive metabolic disorder in which non-protein cystine accumulates within cellular lysosomes owing to a defect in lysosomal cystine transport. The pathognomonic ocular manifestation of cystinosis is the deposition of distinctive iridescent crystals in the cornea, not associated with any inflammatory response or recognised change in corneal function. We measured...
متن کاملInfantile nephropathic cystinosis.
INTRODUCTION Infantile nephropathic cystinosis (INC) is a metabolic disorder due to impaired carrier-mediated transport of cystine out of cellular lysosomes. OBJECTIVE To examine the prevalence and clinical characteristics of INC in paediatric patients with endstage renal disease (ESRD) in Serbia and give a recent statement of the disease. METHODS ESRD database of the Centre for Paediatric ...
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ژورنال
عنوان ژورنال: Clinical Journal of the American Society of Nephrology
سال: 2011
ISSN: 1555-9041,1555-905X
DOI: 10.2215/cjn.02000311