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medullary sponge kidney - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

medullary sponge kidney

MONDO:0015268

Also known as:Cacchi-Ricci diseaseMSKPrecalicial canalicular ectasia

Find Clinical TrialsTrials

Overview

Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics.

Clinical Trials1 registered

Diagnosis

Biomarker and diagnostic research for medullary sponge kidney has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

19 publications have been identified in PubMed for medullary sponge kidney. Research spans Review / Meta-Analysis (42%), Case Report / Case Series (21%), and Other (16%).

Research Type	Count	% of Total
Research summaries	8	42%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1309

GARD

Genetic and Rare Diseases Info Center

GARD:232

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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medullary sponge kidney

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications