medullary sponge kidney
Findings
No curated finding names medullary sponge kidney yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015268), read 2026-09-29. CC BY 4.0.
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Kidney stoneHPOHP:0000787
- Very frequent (80% to 99% of cases)
- Distal renal tubular acidosisHPOHP:0008341
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- Frequent (30% to 79% of cases)
- HypercalciuriaHPOHP:0002150
- Frequent (30% to 79% of cases)
- HemihypertrophyHPOHP:0001528
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HNF1BHGNC:11630
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: medullary sponge kidney
- Also called
- Cacchi-Ricci diseaseMSKPrecalicial canalicular ectasia