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Background and aim <p>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.</p> Results <p>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 <i>GDNF</i> (Glial cell line-derived neurotrophic factor), <i>RET</i> (Rearranged during transfection), and <i>PKHD1</i> (Polycystic kidney and hepatic disease 1). The diagnosis is based on imaging findings and MSK has no specific treatment.</p> Conclusion <p>Further research is warranted to improve our understanding of MSK and develop targeted therapies.</p>

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Porous perspectives: a comprehensive review of medullary sponge kidney

  • 期刊论文

  • 发表日期：

    2025年4月26日

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  • Bárbara Almeida Camolese,
  • Gustavo Santos Rainato,
  • Isadora Soares Bicalho Garcia,
  • Naira Kelly Ribeiro de Almeida,
  • Stella Cardoso Galante,
  • Vitor Neves Batista,
  • Anna Luiza Braga Albuquerque,
  • Pedro Alves Soares Vaz de Castro,
  • Ana Cristina Simões e Silva

摘要

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.