CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report
نویسندگان
چکیده
منابع مشابه
An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.
Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by excessive accumulation of cystine within the lysosome. Cystinosis is caused by mutations in the lysosomal cystine transporter, cystinosin (CTNS). The CTNS gene consists of 12 exons and encodes for an integral lysosomal membrane protein with seven transmembrane domains. A majority of cystinotic patients are of E...
متن کاملInfantile Nephropathic Cystinosis: A Novel CTNS Mutation İnfantil Nefropatik Sistinozis: CTNS Geninde Yeni Bir Mutasyon
©Copyright 2017 by the Atatürk University School of Medicine Available online at www.eurasianjmed.com ABSTRACT Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complication...
متن کاملCTNS molecular genetics profile in a Persian nephropathic cystinosis population.
PURPOSE In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. METHODS Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysi...
متن کاملInfantile Fibrosarcoma in a Child: a Case Report
Abstract Background Infantile Fibrosarcoma is a rare soft tissue tumor in infants and children mostly located in extremities. An infantile and adult form has similar histopathological patterns but survival prognosis is much better in infantile form. Recurrence of infantile fibrosarcoma is common but the rates of metastasis are less than 10 percent in children younger than five Years and 50 p...
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: BMC Nephrology
سال: 2019
ISSN: 1471-2369
DOI: 10.1186/s12882-019-1589-2