[Familial juvenile nephronophthisis--a genetically-caused kidney disease].
It is reported on the course of the autosomal recessive transmitted familiar juvenile nephronophthisis in 3 siblings. Direct symptoms are polydipsia and polyuria with terminal course of chronic renal failure which could treated by dialysis and transplantation. Examination of the safe (parents) and possible (healthy siblings) heterozygotes was without particularities.
Demuth
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Humangenetische Beratungsstelle des Bezirkes Halle am Stadtkrankenhaus Halle.
August
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D000328:Adult; D002648:Child; D004326:Drinking; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male; D010375:Pedigree; D011141:Polyuria / Q000150:complications
Die familiäre juvenile Nephronophthise--eine genetisch bedingte Nierenerkrankung.