Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene Francisco Gonçalves, Pedro Lisboa-Gonçalves, Rita Quental, Susana Fernandes, Sofia Quental, Laurence Michel-Calemard, Claire Goursaud, Sofia Marques, Joana Santos, Isabel Tavares, João Paulo Oliveira

SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant Anamarija Meglic, Marusa Debeljak, Jernej Kovac, Alenka Trampus Bakija, Vladan Rajic, Nika Kojc, Katarina Trebusak Podkrajsek

TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant Miriam E. Reyna-Fabián, Miguel A. Alcántara-Ortigoza, Nancy L. Hernández-Martínez, Jaime Berumen, Raquel Jiménez-García, Gilberto Gómez-Garza, Ariadna González-del Angel