Camolese Bárbara Almeida, Rainato Gustavo Santos, Garcia Isadora Soares Bicalho, Ribeiro de Almeida Naira Kelly, Galante Stella Cardoso, Batista Vitor Neves, Albuquerque Anna Luiza Braga, Vaz de Castro Pedro Alves Soares, Simões E Silva Ana Cristina
Interdisciplinary Laboratory of Medical Investigation, Unit of Pediatric Nephrology, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.
Department of Pediatrics, Faculty of Medicine, UFMG, Researcher Level 1A of CNPq, Alfredo Balena Avenue, 190, 2Nd Floor, Room # 281, Belo Horizonte, MG, 30130-100, Brazil.
Int Urol Nephrol. 2025 Apr 26. doi: 10.1007/s11255-025-04531-0.
Medullary sponge kidney (MSK), a congenital abnormality characterized by dilated collecting ducts in the kidneys, presents with a variable clinical spectrum. This narrative review summarizes the current knowledge on MSK, encompassing its clinical presentation, pathogenesis, recent developments in imaging and laboratory techniques for diagnosis, and the growing understanding of its genetic basis.
Some individuals with MSK may be asymptomatic, others may experience hematuria, renal colic due to kidney stones, recurrent urinary tract infections, and metabolic imbalances. The precise cause of MSK remains unclear, but genetic factors are believed to play a role, with genetic variants identified in genes like GDNF (Glial cell line-derived neurotrophic factor), RET (Rearranged during transfection), and PKHD1 (Polycystic kidney and hepatic disease 1). The diagnosis is based on imaging findings and MSK has no specific treatment.
Further research is warranted to improve our understanding of MSK and develop targeted therapies.
髓质海绵肾（MSK）是一种先天性异常，其特征为肾脏集合管扩张，临床表现多样。本叙述性综述总结了目前关于MSK的知识，包括其临床表现、发病机制、诊断方面影像学和实验室技术的最新进展，以及对其遗传基础的日益深入的理解。
一些患有MSK的个体可能无症状，另一些可能出现血尿、肾结石导致的肾绞痛、复发性尿路感染和代谢失衡。MSK的确切病因尚不清楚，但认为遗传因素起作用，在胶质细胞源性神经营养因子（GDNF）、转染重排（RET）和多囊肾和肝病1（PKHD1）等基因中已鉴定出遗传变异。诊断基于影像学检查结果，且MSK没有特异性治疗方法。
有必要进一步开展研究，以增进我们对MSK的理解并开发靶向治疗方法。
