Autosomal recessive polycystic kidney disease. Clinical and genetic profile. (Review and a case report)

• Published in: Folia medica (Plovdiv) Vol. 45; no. 1; p. 5
• Main Authors: Dimitrakov, Jordan D, Dimitrakov, Dimitar I
• Format: Journal Article
• Language: English
• Published: Bulgaria 2003
• Subjects: Adult; Algorithms; Chromosomes, Human, Pair 6; Female; Humans; Kidney - pathology; Kidney Failure, Chronic - etiology; Kidney Failure, Chronic - genetics; Kidney Failure, Chronic - pathology; Liver - pathology; Male; Pedigree; Polycystic Kidney, Autosomal Recessive - complications; Polycystic Kidney, Autosomal Recessive - genetics; Polycystic Kidney, Autosomal Recessive - pathology; Receptors, Cell Surface - genetics
• ISSN: 0204-8043

Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder inherited in a recessive manner. The ARPKD gene is located on chromosome 6. The disease is characterised by specific changes in the kidney and liver. To make a review of modern achievements in studying the clinical, genetic and diagnostic problems concerning ARPKD and contribute an illustrative case. We reviewed modern research on the molecular genetics of autosomal recessive polycystic kidney disease related to PKHD1 gene located on chromosome 6p21-cen, as well as on the role of fibrocystin in the terminal differentiation of the collecting and biliary ductules. The clinical manifestations of the disease in infancy and in early childhood are analysed. A diagnostic algorithm is proposed incorporating both clinical and genetic methods. The illustrative case we reported of a 22-year-old patient with ARPKD supports the view that the disease occurs, though rarely, later than in childhood. The authors recommend that in cases with late manifestation of the disease in adolescence with chronic renal failure, possibilities be searched for extracorporeal replacement (renal transplantation) when this is allowed by the complications associated with the congenital liver fibrosis.