Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies
Makaleler > Tam Makale · 2023
Yazarlar: Abdul A. Halawi, Kathrin Burgmaier, Anja K. Buescher, Ismail Dursun, Florian Erger, Matthias Galiano, Michaela Gessner, Ibrahim Gökce, Djalila Mekahli, Sevgi Mir, Lukasz Obrycki, Rukshana Shroff, Stella Stabouli, Maria Szczepanska, Ana Teixeira, Lutz T. Weber, Andrea Wenzel, Elke Wühl, Katarzyna Zachwieja, Jörg Dötsch, Franz Schaefer, Max C. Liebau
Kidney International Reports, Uluslararası, Wos, 2023, cilt 8, ss 1449-1454
DOI: 10.1016/j.ekir.2023.04.006
Özet
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic fibrocystic disorder of kidneys and liver, primarily caused by biallelic variants in the PKHD1 gene.1 Variants in multiple genes can result in ARPKD-mimicking phenocopies, including genes causing autosomal dominant polycystic kidney disease (ADPKD), HNF1B-nephropathy, or nephronophthisis.2 Clinical differentiation between ARPKD and ARPKD-mimicking phenocopies like severe very early-onset forms of ADPKD, HNF1B-related cystic kidney disease, or nephronophthisis may be difficult.