Rare Infectious Disease News

Disease Profile

Medullary sponge kidney

Prevalence
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.

Unknown

Age of onset

-

ICD-10

Q61.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Cacchi Ricci disease; Precalyceal canalicular ectasia; Cacchi-Ricci syndrome;

Summary

Medullary sponge kidney (MSK) is a birth defect of the tubules tiny tubes inside the kidneys. In MSK, tiny sacs called cysts form in the inner part of the kidney (the medulla), 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. Many people with MSK have no symptoms, but others may have blood in the urine, kidney stones, and urinary tract infections.[1][2] Rarely, MSK leads to more serious problems, such as chronic pain and kidney failure.[3] The cause for MSK is unknown but some cases may run in families. Treatment is aimed at preventing and removing kidney stones and treating urinary tract infections with antibiotics.

Symptoms

The symptoms of medullary sponge kidney (MSK) can be very different from person to person. Some people have no symptoms, while others may have frequent kidney stones and urinary tract and kidney infections.[1][2] Rarely, people with MSK have low back pain (sometimes associated with kidney stones), chronic pain, and severe kidney disease. The most common symptoms are:

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
Learn More:
HPO ID
80%-99% of people have these symptoms
Nephrolithiasis
Kidney stones
0000787
30%-79% of people have these symptoms
Distal renal tubular acidosis
0008341
Hematuria
Blood in urine
0000790
Hypercalciuria
Elevated urine calcium levels
0002150
5%-29% of people have these symptoms
Hemihypertrophy
Asymmetric overgrowth
0001528

Cause

The cause of medullary sponge kidney (MSK) is unknown. There have been reports that some people with MSK have a change in a gene known as GDNFbut this gene has not been seen in all cases of MSK.[3][4]

Diagnosis

Medullary sponge kidney (MSK) is diagnosed based on the symptoms and confirmed by laboratory testing and imaging. The test used most often to diagnose MSK is intravenous urography (IVU).[1] Other types of imaging (CT scan, MRI, xray) may also be used.

Treatment

Treatment for medullary sponge kidney (MSK) is based on preventing and treating the symptoms of the condition. Increased water intake and a special diet can help reduce the number of kidney stones. Kidney stones can also be removed by surgery, laser treatments, and other methods. Antibiotics can be used to treat urinary tract and kidney infections. Pain medications may be helpful for some.[1][2][3]

Specialists involved in the care of people with MSK include:

  • A nephrologist (kidney specialist)
  • A dietitian (expert in food and nutrition)

Organizations

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.

Organizations Providing General Support

    Learn more

    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.

    Where to Start

      In-Depth Information

      • 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.

        References

        1. 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.
        2. Gambaro G, Danza FM, Fabris A. Medullary sponge kidney. Curr Opin Nephrol Hypertens. 2013; 22:241-246. https://pubmed.ncbi.nlm.nih.gov/23680648.
        3. 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.
        4. Goldfarb D. Medullary sponge kidney. UpToDate. Aug 9, 2019; https://uptodate.com/contents/medullary-sponge-kidney.

        Rare Infectious Disease News