2005
DOI: 10.1111/j.1523-1755.2005.00148.x
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Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Abstract: This is the first study that reports the long-term outcome of ARPKD patients with defined PKHD1 mutations. The 1- and 10-year survival rates were 85% and 82%, respectively. Chronic renal failure was first detected at a mean age of 4 years. Actuarial renal survival rates [end point defined as start of dialysis/renal transplantation (RTX) or by death due to end-stage renal disease (ESRD)] were 86% at 5 years, 71% at 10 years, and 42% at 20 years. All but six patients (92%) had a kidney length above or on the 97t… Show more

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Cited by 296 publications
(317 citation statements)
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“…In some families, the disease has a different progression among affected siblings and molecular test can determine if a brother with mild signs is affected or not (C). 8,15 Since a high percentage of individuals affected with ARPKD survive until (and throughout) adolescence, molecular tests allow to identify them prior to onset of symptoms. In these individuals, the verification of the effects of hypertension and portal hypertension enables treatment, prolonging life (C).…”
Section: Recommendationmentioning
confidence: 99%
“…In some families, the disease has a different progression among affected siblings and molecular test can determine if a brother with mild signs is affected or not (C). 8,15 Since a high percentage of individuals affected with ARPKD survive until (and throughout) adolescence, molecular tests allow to identify them prior to onset of symptoms. In these individuals, the verification of the effects of hypertension and portal hypertension enables treatment, prolonging life (C).…”
Section: Recommendationmentioning
confidence: 99%
“…Patients were chosen for analysis if they showed typical clinical and/or histologic features of ARPKD as previously described in detail (2,5,8). We performed PKHD1 mutation analysis in a large cohort of .500 patients with polycystic kidney disease phenotypes using conventional Sanger sequencing or a targeted next-generation sequencing approach.…”
Section: Patientsmentioning
confidence: 99%
“…About one half of patients with ARPKD die shortly after birth from respiratory insufficiency due to pulmonary hypoplasia and thoracic compression by the excessively enlarged kidneys. Although ARPKD clearly represents a pediatric disorder, adult patients have also been described with a relatively mild clinical course (4,5). Patients with ARPKD invariably exhibit histologic liver involvement characterized by defective remodeling of the ductal plate with congenital hepatic fibrosis and biliary duct ectasia (so-called ductal plate malformation).…”
Section: Introductionmentioning
confidence: 99%
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“…[1][2][3][4][5] Fibrocystin/polyductin, the protein encoded by PKHD1, is expressed on the primary cilia of renal and bile duct epithelial cells and is believed to function to maintain the 3-dimensional tubular architecture. 6 Kidney cysts in ARPKD are nonobstructive dilations of the collecting ducts.…”
mentioning
confidence: 99%