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• W2152166772 abstract "Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).BackgroundARPKD is associated with mutations in the PKHD1 gene on chromosome 6p12. Most cases manifest peri-/neonatally with a high mortality rate in the first month of life while the clinical spectrum of surviving patients is much more variable than generally perceived.MethodsWe examined the clinical course of 164 neonatal survivors (126 unrelated families) over a mean observation period of 6 years (range 0 to 35 years). PKHD1 mutation screening was done by denaturing high-performance liquid chromatography (DHPLC) for the 66 exons encoding the 4074 aa fibrocystin/polyductin protein.Results and ConclusionThis 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 97th centile for age. About 75% of the study population developed systemic hypertension. Sequelae of congenital hepatic fibrosis and portal hypertension developed in 44% of patients and were related with age. Positive correlations could further be demonstrated between renal and hepatobiliary-related morbidity suggesting uniform disease progression rather than organ-specific patterns. PKHD1 mutation analysis revealed 193 mutations (70 novel ones; 77% nonconservative missense mutations). No patient carried two truncating mutations corroborating that one missense mutation is indispensable for survival of newborns. We attempted to set up genotype-phenotype correlations and to categorize missense mutations. In 96% of families we identified at least one mutated PKHD1 allele (overall detection rate 76.6%) indicating that PKHD1 mutation screening is a powerful diagnostic tool in patients suspected with ARPKD. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). ARPKD is associated with mutations in the PKHD1 gene on chromosome 6p12. Most cases manifest peri-/neonatally with a high mortality rate in the first month of life while the clinical spectrum of surviving patients is much more variable than generally perceived. We examined the clinical course of 164 neonatal survivors (126 unrelated families) over a mean observation period of 6 years (range 0 to 35 years). PKHD1 mutation screening was done by denaturing high-performance liquid chromatography (DHPLC) for the 66 exons encoding the 4074 aa fibrocystin/polyductin protein. 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 97th centile for age. About 75% of the study population developed systemic hypertension. Sequelae of congenital hepatic fibrosis and portal hypertension developed in 44% of patients and were related with age. Positive correlations could further be demonstrated between renal and hepatobiliary-related morbidity suggesting uniform disease progression rather than organ-specific patterns. PKHD1 mutation analysis revealed 193 mutations (70 novel ones; 77% nonconservative missense mutations). No patient carried two truncating mutations corroborating that one missense mutation is indispensable for survival of newborns. We attempted to set up genotype-phenotype correlations and to categorize missense mutations. In 96% of families we identified at least one mutated PKHD1 allele (overall detection rate 76.6%) indicating that PKHD1 mutation screening is a powerful diagnostic tool in patients suspected with ARPKD." @default.
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• W2152166772 date "2005-03-01" @default.
• W2152166772 modified "2023-10-10" @default.
• W2152166772 title "Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)" @default.
• W2152166772 cites W1546157928 @default.
• W2152166772 cites W1828308889 @default.
• W2152166772 cites W1960255425 @default.
• W2152166772 cites W1966359454 @default.
• W2152166772 cites W1982323258 @default.
• W2152166772 cites W1983116995 @default.
• W2152166772 cites W1988651790 @default.
• W2152166772 cites W1995990736 @default.
• W2152166772 cites W1996445467 @default.
• W2152166772 cites W2009137611 @default.
• W2152166772 cites W2010967733 @default.
• W2152166772 cites W2012654830 @default.
• W2152166772 cites W2016268524 @default.
• W2152166772 cites W2018734991 @default.
• W2152166772 cites W2021645021 @default.
• W2152166772 cites W2028279880 @default.
• W2152166772 cites W2029871205 @default.
• W2152166772 cites W2030892489 @default.
• W2152166772 cites W2034191939 @default.
• W2152166772 cites W2035098243 @default.
• W2152166772 cites W2046654717 @default.
• W2152166772 cites W2049335442 @default.
• W2152166772 cites W2057843157 @default.
• W2152166772 cites W2061060689 @default.
• W2152166772 cites W2064144613 @default.
• W2152166772 cites W2066216761 @default.
• W2152166772 cites W2066821458 @default.
• W2152166772 cites W2068550161 @default.
• W2152166772 cites W2070891976 @default.
• W2152166772 cites W2071746055 @default.
• W2152166772 cites W2076974776 @default.
• W2152166772 cites W2077689651 @default.
• W2152166772 cites W2081362828 @default.
• W2152166772 cites W2095869636 @default.
• W2152166772 cites W2096021112 @default.
• W2152166772 cites W2096141807 @default.
• W2152166772 cites W2114044768 @default.
• W2152166772 cites W2116623104 @default.
• W2152166772 cites W2122166628 @default.
• W2152166772 cites W2125946047 @default.
• W2152166772 cites W2131174502 @default.
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• W2152166772 doi "https://doi.org/10.1111/j.1523-1755.2005.00148.x" @default.
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