Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria
نویسندگان
چکیده
منابع مشابه
Bartter syndrome associated with nephropathic cystinosis.
Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalaemia), increased blood pH (alkalosis) and normal to low blood pressure. There are three types of Bartter syndrome: neonatal, the classic type and Gitelman syndrome. Nephropathic cystinosis is an autosomal recessive disorder characterized by accumulat...
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 ...
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 کاملAcute Lymphoblastic Leukemia Presenting as Fanconi Syndrome
Acute lymphoblastic leukemia (ALL) presenting as Fanconi syndrome (FS) is extremely rare. Here, we report a case of ALL presenting as bilateral nephromegaly following FS. A 2-year-old girl was unexpectedly diagnosed with bilateral nephromegaly. After 2 weeks, she developed general fatigue, thirst, and polyuria. Laboratory examinations revealed renal tubular acidosis, hypokalemia, hypophosphatem...
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ژورنال
عنوان ژورنال: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
سال: 2015
ISSN: 2249-782X
DOI: 10.7860/jcdr/2015/10875.5692