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1,503 results

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Page 1
Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.
Burgmaier K, Broekaert IJ, Liebau MC. Burgmaier K, et al. Adv Kidney Dis Health. 2023 Sep;30(5):468-476. doi: 10.1053/j.akdh.2023.01.005. Adv Kidney Dis Health. 2023. PMID: 38097335 Review.
Autosomal recessive polycystic kidney disease (ARPKD) is the rare and usually early-onset form of polycystic kidney disease with a typical clinical presentation of enlarged cystic kidneys and liver involvement with congenita …
Autosomal recessive polycystic kidney disease (ARPKD) is the rare and usually early-onset form of poly …
Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.
Cordido A, Vizoso-Gonzalez M, Garcia-Gonzalez MA. Cordido A, et al. Int J Mol Sci. 2021 Jun 17;22(12):6523. doi: 10.3390/ijms22126523. Int J Mol Sci. 2021. PMID: 34204582 Free PMC article. Review.
Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. ...However, the function …
Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms …
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, Pascaud O, Elion J, Grandchamp B, Michel-Calemard L, Missy P, Zaccaria I, Le Nagard H, Gerard B, Loirat C; Société Française de Foetopathologie; Barbet J, Beaufrère AM, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux JJ, Rouleau-Dubois C, Sinico M, Tantau J, Wann AR. Denamur E, et al. Kidney Int. 2010 Feb;77(4):350-8. doi: 10.1038/ki.2009.440. Epub 2009 Nov 25. Kidney Int. 2010. PMID: 19940839 Free article.
The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype. The presence of two truncating mutations in the PKHD1 gene encoding the fibrocystin protein is associated with neonatal death while patients who …
The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype. The p …
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108 Free article.
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. ...Patients with two missense variants affecting amino acid …
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that …
The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Goggolidou P, Richards T. Goggolidou P, et al. Biochim Biophys Acta Mol Basis Dis. 2022 Apr 1;1868(4):166348. doi: 10.1016/j.bbadis.2022.166348. Epub 2022 Jan 12. Biochim Biophys Acta Mol Basis Dis. 2022. PMID: 35032595 Free article. Review.
ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of cystic kidneys and liver fibrosis. ...
ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of cystic kidneys and liver fibrosis. …
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie). Bergmann C, et al. Kidney Int. 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x. Kidney Int. 2005. PMID: 15698423 Free article.
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 o …
Actuarial renal survival rates [end point defined as start of dialysis/renal transplantation (RTX) or by death due to end-stage renal dis …
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. Gunay-Aygun M, et al. Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20. Mol Genet Metab. 2010. PMID: 19914852 Free PMC article.
PKHD1, the gene mutated in autosomal recessive polycystic kidney disease (ARPKD)/congenital hepatic fibrosis (CHF), is an exceptionally large and complicated gene that consists of 86 exons and has a number of alternatively spliced transcripts. . …
PKHD1, the gene mutated in autosomal recessive polycystic kidney disease (ARPKD)/congenital hepatic fibro …
Early clinical management of autosomal recessive polycystic kidney disease.
Liebau MC. Liebau MC. Pediatr Nephrol. 2021 Nov;36(11):3561-3570. doi: 10.1007/s00467-021-04970-8. Epub 2021 Feb 17. Pediatr Nephrol. 2021. PMID: 33594464 Free PMC article. Review.
Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. ...ARPKD frequently presents perinatally, and the management of perinatal and early disease symptoms may be challenging. …
Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric …
Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease.
Benz EG, Hartung EA. Benz EG, et al. Pediatr Nephrol. 2021 Sep;36(9):2639-2658. doi: 10.1007/s00467-020-04869-w. Epub 2021 Jan 21. Pediatr Nephrol. 2021. PMID: 33474686 Free PMC article. Review.
Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are characterized by bilateral cystic kidney disease leading to progressive kidney fu …
Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic …
Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney?
Chandar J, Garcia J, Jorge L, Tekin A. Chandar J, et al. Pediatr Nephrol. 2015 Aug;30(8):1233-42. doi: 10.1007/s00467-014-2887-3. Epub 2014 Aug 13. Pediatr Nephrol. 2015. PMID: 25115876 Review.
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by enlarged kidneys with dilated collecting ducts and congenital hepatic fibrosis. ...In the presence of significant liver disease and ESKD, consideration should be gi …
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by enlarged kidneys with dilated c …
1,503 results