Pathology - Adult Polycystic Kidney and Infantile Polycystic kidney
Adult Polycystic Kidney Disease (APKD): Autosomal dominant inheritance is observed in 90% of cases due to a mutation in the APKD1 gene located on chromosome 16. Infantile Polycystic Kidney (IPKD) is inherited in an autosomal recessive manner. APKD: Bilateral replacement of renal parenchyma with several big cysts of varying sizes. IPKD refers to closed, tiny, and uniform cysts that are not connected to the collecting system. The patient presents with hypertension, hematuria, palpable renal masses, and flank pain. A CT scan reveals numerous cysts in both kidneys. The condition is linked to secondary polycythemia, polycystic liver disease, berry aneurysms of the cerebral circulation, and mitral valve prolapse. IPKD: CT scan reveals the presence of many cysts at birth. APKD: Renal failure cannot be prevented by therapy, however treating hypertension with ACE inhibitors and following a low-protein diet may help slow down the progression of end-stage renal disease. Transplantation should be considered. IPKD leads to death shortly after birth.
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