Int Urol Nephrol. 2025 Apr 26. doi: 10.1007/s11255-025-04531-0. Online ahead of print.
ABSTRACT
BACKGROUND AND AIM: 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.
RESULTS: 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.
CONCLUSION: Further research is warranted to improve our understanding of MSK and develop targeted therapies.
PMID:40287601 | DOI:10.1007/s11255-025-04531-0
