Unusual Cause of Nephrolithiasis: Cystinuria
نویسندگان
چکیده
منابع مشابه
Bartter syndrome type 3: an unusual cause of nephrolithiasis.
Sir, Recent achievements in genetic research have greatly advanced our knowledge of Bartter-like syndromes at the molecular level w1x. Genotype–phenotype correlations have linked the so called ‘antenatal’ Bartter syndrome to mutations in either the bumetanide-sensitive Na-K-2Cl co-transporter or the ROMK channel (gene symbols SLC12A1 and KCNJ1, respectively; the terms Bartter syndrome type 1 an...
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Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. Among the heterogeneous group of kidney stone diseases, cystinuria is the only disorder which is exclusively caused by gene mutations. So far, two genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21) encodes the heavy ...
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Urolithiasis is an uncommon renal problem in paediatrics. Once identified, however, a thorough investigation should be performed to look for the underlying cause. Children with renal stone may present as haematuria, recurrent abdominal pain and urinary tract infection. Since abdominal colic is a common reason for medical consultation, rare cause like renal stone can be easily overlooked. We rep...
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ژورنال
عنوان ژورنال: Turkiye Klinikleri Journal of Case Reports
سال: 2019
ISSN: 2147-9291
DOI: 10.5336/caserep.2018-61835