[Autosomal recessive polycystic kidney].
A case of a 22 years old woman with autosomal-recessive form of kidney polycystosis is presented. The diagnosis was made in early childhood. A combination of renal anomaly and hepatic fibrosis with manifestations of portal hypertension was present. No deviations from the other internal organs were found. At the age of 12 she entered into the stage of chronic renal failure. The last five years she is on dialysis treatment. She had survived several acute bleedings from esophageal varices. The authors are of the opinion that the case is of interest since patients with autosomal-recessive renal polycystosis very rarely reach majority.
Todorov
V
V
Penkova
S
S
Lalev
I
I
D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000473:pathology; D025063:Chromosome Disorders; D004932:Esophageal and Gastric Varices / Q000175:diagnosis / Q000473:pathology; D005260:Female; D005355:Fibrosis / Q000473:pathology; D006471:Gastrointestinal Hemorrhage / Q000175:diagnosis / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D006975:Hypertension, Portal / Q000175:diagnosis / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000473:pathology / Q000628:therapy; D008099:Liver / Q000473:pathology; D007690:Polycystic Kidney Diseases / Q000175:diagnosis* / Q000473:pathology; D006435:Renal Dialysis
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