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Autosomal dominant policystic kidney disease, more than a renal disease.

Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder mainly involving the kidney. It affects one in 400-1000 live births. Early hypertension and progressive renal failure due to massive enlargement of cysts and fibrosis are hallmarks of the disease. ADPKD accounts for ~5-10% of cases requiring renal replacement therapy. But not only the kidneys are affected in ADPKD: cysts also occur in other organs such as the liver, pancreas, arachnoid membrane and seminal vesicles. Non-cystic manifestations of the diseases are intracranial aneurysms, hernias and valvular abnormalities. Complications in ADPKD usually result from kidney involvement and include cyst bleeding and cyst infection. However, serious extrarenal features such as subarachnoid haemorrhage can also occur. There is no specific treatment for ADPKD currently, but many molecules targeting up- or downregulated molecules in the renal epithelial cells are being tested. A clinical trial using tolvaptan (a vasopressin receptor antagonist) has demonstrated efficacy, while mTOR inhibitors have shown no positive effect in ADPKD. ACEIs and ARBs are the drugs of choice for treating hypertension in ADPKD. Until a specific therapy becomes available, early treatment of hypertension and lifestyle changes are encouraged.
AuthorsR Torra
JournalMinerva endocrinologica (Minerva Endocrinol) Vol. 39 Issue 2 Pg. 79-87 (Jun 2014) ISSN: 0391-1977 [Print] Italy
PMID24736482 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Clinical Trials as Topic
  • Humans
  • Hypertension (etiology)
  • Polycystic Kidney, Autosomal Dominant (complications, diagnosis, therapy)
  • Prognosis
  • Renal Insufficiency (etiology)
  • Renal Replacement Therapy (methods)

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