Medullary sponge kidney
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Cacchi Ricci disease; Precalyceal canalicular ectasia; Cacchi-Ricci syndrome;
Medullary sponge kidney (MSK) is a
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
|Distal renal tubular acidosis||0008341|
Blood in urine
Elevated urine calcium levels
|5%-29% of people have these symptoms|
Specialists involved in the care of people with MSK include:
dietitian(expert in food and nutrition)
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) conducts and supports research on a broad spectrum of diseases affecting public health. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Medullary sponge kidney. Click on the link to view a sample search on this topic.
- Iman TH, Patail H, Patail H. Medullary Sponge Kidney: Current Perspectives. Int J Nephrol Renovasc Dis. Sep 26, 2019; 12:213-218. https://pubmed.ncbi.nlm.nih.gov/31576161.
- Gambaro G, Danza FM, Fabris A. Medullary sponge kidney. Curr Opin Nephrol Hypertens. 2013; 22:241-246. https://pubmed.ncbi.nlm.nih.gov/23680648.
- Gambaro G, Goldfarb DS, Baccaro R, Hirsch J, Topilow N, D’Alonzo S, Gambassi G, Ferraro PM. Chronic pain in medullary sponge kidney: A rare and never described clinical presentation. J Nephrol. Aug, 2018; 31(4):537-542. https://pubmed.ncbi.nlm.nih.gov/29468561.
- Goldfarb D. Medullary sponge kidney. UpToDate. Aug 9, 2019; https://uptodate.com/contents/medullary-sponge-kidney.