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Book

Autosomal Dominant Polycystic Kidney Disease

Muddassar Mahboob  1 , Preeti Rout  2 , Stephen W. Leslie  3 , Syed Rizwan A. Bokhari  4
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan.
.
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Book

Autosomal Dominant Polycystic Kidney Disease

Muddassar Mahboob et al.
Free Books & Documents

Excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of renal failure worldwide. ADPKD is a multisystem and progressive inherited disorder with renal cyst formation, kidney enlargement, and extrarenal organ involvement (eg, liver, pancreas, spleen, cardiac, and arachnoid membranes).

In the adult population, ADPKD occurs in all races and is responsible for 6% to 10% of all patients on dialysis in the United States. Cysts may be detected in childhood or even in utero, but clinical manifestations do not typically appear until the third or fourth decade of life.

Autosomal recessive polycystic kidney disease (ARPKD) is very rare and affects 1 in 20,000 - 40,000 live births. ARPKD has a much more severe clinical course and is caused by mutations in polycystic kidney and hepatic disease 1 (PKHD1), which encodes fibrocystin. ARPKD usually presents in childhood and often causes death in childhood or perinatally. Please see StatPearl's companion reference article, Autosomal Recessive Polycystic Kidney Disease.

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Conflict of interest statement

Disclosure: Muddassar Mahboob declares no relevant financial relationships with ineligible companies.

Disclosure: Preeti Rout declares no relevant financial relationships with ineligible companies.

Disclosure: Stephen Leslie declares no relevant financial relationships with ineligible companies.

Disclosure: Syed Rizwan Bokhari declares no relevant financial relationships with ineligible companies.

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References

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