Adult polycystic kidney disease is-
Ans. is 'a' i.e., Autosomal dominant Summary of Renal cvstic disease InheritancePathologic featuresClinical features of ComplicationsTypical outcomeAdult polycystic kidney diseaseAutosomaldominantLarge multicystie kidneys, liver cysts, berry aneurysmsHematuria, flank, pain, urinary tract infection, renal stones, hypertensionCronic renal featureBeginning -------- 40-60 yrChildhood polycystic kidney diseaseMedullary sponge kidneyAutosomal recessiveNoneEnlarged cystic kidneys at birthMedullary cysts on excretory urographyHepatic fibrosisHematuria, urinary tract infection, recurrent renal stonesBoningSample cystsNoneSingle or multiple cysts in normal-sized kidneysMicroscopic hematuriaBenignAcquired renal cystic diseaseNoneCystic degeneration in end-stage kidney diseaseHemorrhage, ervthrocytosis, neoplasiaDependence on dialysisAutosomal dominant fAduIti polvcvstic kidney diseaseo ADPKD is a hereditory disorder characterized by multiple expanding cysts of both kidneys that ultimately destroy the renal parenchyma and cause renal failure.o The cysts initially involves only portions of nephrons, so renal function is retained about the fourth or fifth decade of life (option e).Geneticso The pattern of inheritance is autosomal dominant with high penetrance,o Mutations occurs in one of the following gene.PKDI gene on chromosome 16 that encodes polycystin 1-In 85% of cases.PKD2 gene on chromosome 4 that encodes polycystin 2.o The PKDI gene encodes a protein named polycystin-1. It has been localized to tubular epithelial cells, particularly those of the distal nephron. At present, its presise function is not known, but it contains domains that are usually involved in cell-cell and cell- matrix interact]ons.The PKD2 gene productpoIveystin-2 is localized to all segments of the renal tubules and is also expressed in many extrarenal tissues. Recent evidence indicates that polycystin-2 may act as a Ca2+ permeable cation channel and that a basic defect in APKD is a disruption in the regulation of the intracellular Ca2+ levels.Pathologyo The disease is universally bilateral,o Both the kidney are grossly enlarged,o Multiple cysts cover the surface of the kidney.o The cysts contain straw coloured fluid that may become hemorrhagic.o The cysts are distributed evenly throught the cortex and medulla.o Cysts may also present at extrarenal locations, e.g. liver, spleen, pancrease, ovary.Extrarenal anomalies seen in patients with adult polvcvstic kidney disease.CystsBerry aneurysmColonic diverticulaMitral valvea) Liver (M. C. Site)(Present in 5-10%) Prolapseb) Spleen c) Pancreas d) Ovaries
Autosomal dominant
Autosomal recessive
X-linked
Mitochondria
Chronic and Cystic Diseases