<unk>  <unk>  or<unk> , also known as<unk><unk>  syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the<unk> . These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood. Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional as well.<unk>  is caused by abnormal genes that produce a specific abnormal protein; this protein has an adverse effect on tubule development.<unk>  is a general term for two types, each having their own pathology and genetic cause: autosomal dominant<unk>  (ADPKD) and autosomal recessive<unk>  (ARPKD). The abnormal gene exists in all cells in the body; as a result, cysts may occur in the liver, seminal vesicles, and pancreas. This genetic defect can also cause aortic root aneurysms, and aneurysms in the circle of Willis cerebral arteries, which if they rupture, can cause a subarachnoid hemorrhage. Diagnosis may be suspected from one, some, or all of the following: new onset flank pain or red urine; a positive family history; palpation of enlarged<unk> s on physical exam; an incidental finding on abdominal sonogram; or an incidental finding of abnormal<unk>  function on routine lab work (BUN, serum creatinine, or eGFR). Definitive diagnosis is made by abdominal CT exam. Complications include hypertension due to the activation of the renin–angiotensin–aldosterone system (RAAS), frequent cyst infections, urinary bleeding, and declining renal function. Hypertension is treated with angiotensin converting enzyme inhibitors (ACEIs) or angiotensin receptor blockers (ARBs). Infections are treated with antibiotics. Declining renal function is treated with renal replacement therapy (RRT): dialysis and/or transplantation. Management from the time of the suspected or definitive diagnosis is by a board-certified nephrologist.
Polycystic kidney disease
Cystic kidney disease
Medullary cystic kidney disease
Medullary sponge kidney
Shunt nephritis
Glomerulocystic kidney disease
Page kidney
Focal proliferative nephritis