## Communicated by Jurgen Horst Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal-and liverrelated morbidity and mortality. The clinical spectrum is widely variable. About 30 to 50% of affected individuals die in the neonatal period, while others survive
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
β Scribed by Bergmann, Carsten; Senderek, Jan; Windelen, Ellen; Kupper, Fabian; Middeldorf, Iris; Schneider, Frank; Dornia, Christian; Rudnik-Schoneborn, Sabine; Konrad, Martin; Schmitt, Claus P.; Seeman, Tomas; Neuhaus, Thomas J.; Vester, Udo; Kirfel, Jutta; Buttner, Reinhard; Zerres, Klaus
- Book ID
- 109066984
- Publisher
- Nature Publishing Group
- Year
- 2005
- Tongue
- English
- Weight
- 497 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0085-2538
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## Communicated by A. Jamie Cuticchia Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal-and liverrelated morbidity and mortality with variable disease expression. While most cases manifest peri-/neonatally with a high mortality rate in the first month of
## Background: Autosomal-recessive polycystic kidney disease (arpkd) is an important neonatal nephropathy characterized by fusiform dilation of collecting ducts, congenital hepatic fibrosis, and in some cases caroli's disease. the arpkd gene, pkhd1, has recently been identified. herein we describe
## Communicated by Jurgen Horst Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases in children. The clinical spectrum ranges from stillbirth and neonatal demise to survival into adulthood. In a given family, however, patients usually di