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Browse result for Polycystic kidney disease

※ introduction

    Polycystic kidney disease (PKD or PCKD, also known as polycystic kidney syndrome) is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. 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. PKD is caused by abnormal genes that produce a specific abnormal protein; this protein has an adverse effect on tubule development. PKD is a general term for two types, each having their own pathology and genetic cause: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (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 kidneys on physical exam; an incidental finding on abdominal sonogram; or an incidental finding of abnormal kidney 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¨Cangiotensin¨Caldosterone 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 an appropriately trained doctor.

Reference
Wiki: Polycystic kidney disease



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00202P085814233
MET
Hepatocyte growth factor receptor
Homo sapiens
PTMD03907P08F945314
PKHD1
Fibrocystin
Homo sapiens
PTMD06048P981615310
PKD1
Polycystin-1
Homo sapiens
PTMD06576Q135635311
PKD2
Polycystin-2
Homo sapiens
PTMD06803Q1469723193
GANAB
Neutral alpha-glucosidase AB
Homo sapiens
PTMD14024Q9UBS451726
DNAJB11
DnaJ homolog subfamily B member 11
Homo sapiens