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1,502 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 congenital hepatic fibr …
Autosomal recessive polycystic kidney disease (ARPKD) is the rare and usually early-onset form of polycystic …
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 survive …
The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype. The presence …
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. ...
Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of …
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 acids 709-1837 of …
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically …
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. ...
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. ...This review discusses aspects of early manifestations in ARPKD and its clincial management with a special focus on kidney di …
Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephro …
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. ...The p …
PKHD1, the gene mutated in autosomal recessive polycystic kidney disease (ARPKD)/congenital hepatic fibrosis (CH …
Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.
Yang H, Sieben CJ, Schauer RS, Harris PC. Yang H, et al. Adv Kidney Dis Health. 2023 Sep;30(5):397-406. doi: 10.1053/j.akdh.2023.04.004. Adv Kidney Dis Health. 2023. PMID: 38097330 Free PMC article. Review.
Autosomal dominant polycystic kidney disease (ADPKD) has progressive cystogenesis and accounts for 5-10% of kidney failure (KF) patients. ...The two major genes are PRKCSH and SEC63, while GANAB, ALG8, and PKHD1 can present as ADPKD or autosomal …
Autosomal dominant polycystic kidney disease (ADPKD) has progressive cystogenesis and accounts for 5-10% of kidney …
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 function decline. ...Th …
Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney …
Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.
Salman MA, Elgebaly A, Soliman NA. Salman MA, et al. Pediatr Nephrol. 2024 Sep;39(9):2569-2578. doi: 10.1007/s00467-024-06281-0. Epub 2024 Jan 23. Pediatr Nephrol. 2024. PMID: 38261064 Review.
Most MENA countries share social and economic statuses, cultural relativism, religious beliefs, and healthcare policies. Polycystic kidney diseases (PKDs) are the most common genetic causes of kidney failure, accounting for nearly 8.0% of dialysis cases. ...M …
Most MENA countries share social and economic statuses, cultural relativism, religious beliefs, and healthcare policies. Polycystic …
1,502 results