کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4164179 1274331 2006 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Identification of novel cystinuria mutations in pediatric patients
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Identification of novel cystinuria mutations in pediatric patients
چکیده انگلیسی

ObjectiveCystinuria is a common inherited disorder of renal reabsorption of cystine and the dibasic amino acids. So far, mutations in two genes (SLC3A1 and SLC7A9) have been identified in cystinuria patients. Molecular searches for cystinuria mutations show that their distribution depends on the ethnic origin of the patients, but have not allowed the detection of 100% of variants. Pediatric patients representing a severe form of the disease appear to carry other mutations than those patients referred from urological centers. We analysed patients with an age of manifestation less than 15 years for mutations in the two cystinuria genes.Patients and methodsWe screened 17 patients for mutations in SLC3A1 and SLC7A9, 15 of whom were younger than 16 years at first stone formation. The search for mutations used PCR-based standard techniques, and was focused on point mutations and larger deletions and duplications in both genes.ResultsApart from detection of mutations in approximately 70% of patients but identification of only 53% of alleles, we detected three novel mutations as well as three new polymorphisms.ConclusionThe detection rate in young cystinuria patients is lower than that in older patients, and there is a different pattern of variants. There is evidence for other (probably genetic) factors being involved in the pathophysiology of cystinuria.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Pediatric Urology - Volume 2, Issue 6, December 2006, Pages 575–578
نویسندگان
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