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Porous perspectives: a comprehensive review of medullary sponge kidney

Bárbara Almeida Camolese1, Gustavo Santos Rainato1, Isadora Soares Bicalho Garcia1

  • 1Interdisciplinary Laboratory of Medical Investigation, Unit of Pediatric Nephrology, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.

International Urology and Nephrology
|April 26, 2025
PubMed
Abstract

Insights

Medullary sponge kidney (MSK) is a congenital kidney abnormality with diverse symptoms. Research is ongoing to understand its genetic causes and develop treatments for this condition.

Area of Science:

  • Nephrology
  • Medical Genetics
  • Congenital Abnormalities

Background:

  • Medullary sponge kidney (MSK) is a congenital kidney abnormality characterized by dilated collecting ducts.
  • Clinical presentation of MSK is variable, ranging from asymptomatic cases to symptomatic individuals experiencing hematuria, renal colic, and infections.

Purpose of the Study:

  • To provide a comprehensive narrative review of current knowledge on Medullary Sponge Kidney (MSK).
  • To summarize MSK's clinical presentation, pathogenesis, diagnostic techniques, and genetic basis.

Main Methods:

  • Narrative review of existing literature on Medullary Sponge Kidney (MSK).
  • Analysis of clinical presentations, diagnostic imaging and laboratory techniques.
  • Review of genetic studies identifying variants in genes such as GDNF, RET, and PKHD1.

Main Results:

  • MSK presents with a spectrum of symptoms including hematuria, kidney stones, recurrent UTIs, and metabolic imbalances.
  • Genetic factors are implicated, with variants found in GDNF, RET, and PKHD1.
  • Diagnosis relies on imaging findings; no specific treatment currently exists for MSK.

Conclusions:

  • Further research is essential for a deeper understanding of MSK.
  • Development of targeted therapies for Medullary Sponge Kidney is needed.
Keywords:
Beckwith–Wiedemann syndromeKidney cystic diseasesMedullary sponge kidneyNephrolithiasisProteomics

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