POLYCYSTIC KIDNEY DISEASE/AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE-Ethiology, pathogenesis and clinical manifestation

 

  Polycystic Kidney Disease

  Polycystic kidney disease is a genetic disorder that inhereted heterogenously and causes kidney failure.The most common form of polycystic kidney disease is the autosomal dominant(ADPKD).On yhe other hand the autosomal ressesive form of polycystic kidney disease(ARPKD) is seen less than autosomal dominant polycystic kidney disease(ADPKD) and affects mostly pediatric population.

  Etiology and Pathogenesis

  In autosomal dominant polycystic kidney disease, there are epitheliel lined cyts in kidney.Cysts occurs only in 5% of tubules but when they grow extensively, normal tubules are also affected.Autosomal polycystic kidney disease(ADPKD) is caused by some mutations in human genes that called PKD1 and PKD2.They are also called as polycystin-1(PC1) and polycystin-2(PC2).

  Clinical Manifatations

  Autosomal dominant polycystic kidney(ADPKD) disease affects both kidneys.We can also detect focal cysts in kidney especially below aged 30 years.In autosomal dominant polycystic kidney disease(ADPKD) kidneys enlarge fourtimes in length and 20 time in weight.The patients are mostly asymtomatic and they are usually diagnosed incidentally after fourth to fifth decade.The symptoms are usually hypertension, abdominal masses, back or flank pain.These symptoms seen 60% of autosomal polycyctic kidney disease(ADPKD) patients ıf symptoms appearent.Gross hematuria can also be seen in 40% of patients if cyst rupture occurs.Proteinuria may become a symptom.Infection is the second most common death of autosomal polycystic kidney disease and we usually detact gram-negative bacteria.When infection occurs, patients have fever and flank pain.Kidney stones may occur in aproximately 20% of autosomal dominant polycystic kidney disease(ADPKD) patients.More than half of them are uric acid stones others are calcium oxalate stones.Renal cell carcinome is rarely seen in ADPKD sompared to general population.We use CT scan and MRI to distinguish a malignancy from a cyst formation.

 Picture showing an autosomal dominant polycystic kidney disease.

The kidney has been cut open.