Genetic defects underlying renal stone disease
نویسندگان
چکیده
منابع مشابه
Genetic link between renal birth defects and congenital heart disease.
Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies...
متن کاملBiochemical and genetic defects underlying human congenital hypotransferrinemia.
INTRODUCTION Human congenital hypotransferrinemia is a rare disorder characterized by the virtual absence of transferrin in the serum. No information on the causes of the disease is known. MATERIALS AND METHODS Here we describe the identification of a new case, its treatment and the biochemical and genetic defects underlying the disorder. RESULTS At diagnosis the patient had serum Tf levels...
متن کاملIdiopathic hypercalciuria and calcium renal stone disease: our cases.
Renal idiopathic stone disease affects about 8% of the Italian population. The most common form in western countries (70- 80% of the cases) is calcium nephrolithiasis, with stones formed mainly by calcium oxalate and phosphate. One of the main metabolic anomalies that is often associated with calcium nephrolithiasis is hypercalciuria. Primary hypercalciuria is a metabolic defect characterized b...
متن کاملRenal stone disease: Causes, evaluation and medical treatment.
The purpose of the present review is to provide an update about the most common risk factors or medical conditions associated with renal stone formation, the current methods available for metabolic investigation, dietary recommendations and medical treatment. Laboratory investigation of hypercalciuria, hyperuricosuria, hyperoxaluria, cystinuria, hypocitraturia, renal tubular acidosis, urinary t...
متن کاملEpidemiology of paediatric renal stone disease in the UK.
BACKGROUND The previous epidemiological study of paediatric nephrolithiasis in Britain was conducted more than 30 years ago. AIMS To examine the presenting features, predisposing factors, and treatment strategies used in paediatric stones presenting to a British centre over the past five years. METHODS A total of 121 children presented with a urinary tract renal stone, to one adult and one ...
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ژورنال
عنوان ژورنال: International Journal of Surgery
سال: 2016
ISSN: 1743-9191
DOI: 10.1016/j.ijsu.2016.11.015