Rare Gastroenterology News

Disease Profile

Minimal change disease

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

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ICD-10

#N/A

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Idiopathic minimal change nephrotic syndrome; Minimal change nephrotic syndrome; Minimal change glomerulopathy;

Categories

Kidney and Urinary Diseases; RDCRN

Summary

Minimal change disease is a kidney disease in which there is damage to the filtering units of the kidney (glomeruli). It is the most common cause of nephrotic syndrome in children.[1][2] Nephrotic syndrome is comprised of a group of symptoms including protein in the urine (proteinuria), low protein levels in the blood, high cholesterol and triglycerides, an increased risk for blood clots, and swelling.[3] Other features of this disease include weight gain and a foamy appearance of the urine.[2] The cause of minimal change disease is unknown, but it may occur following an allergic reaction or infection.[1] Treatment may involve the use of steroids.[1][2]

Treatment

Corticosteroids are typically the first line of treatment for minimal change disease. The fluid retention and high blood pressure that often accompanies minimal change disease may be treated with the use of water pills (diuretics) in combination with a low sodium diet and blood pressure medications (such as angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blocker (ARB), calcium channel antagonists).

Other medications that may be used in instances of disease recurrence include those that are used to treat certain types of cancer (cyclophosphamidechlorambucilrituximab) and those that suppress the immune system (cyclosporinetacrolimusazathioprine, mycophenolate mofetil).[4][5]

There is an increased risk for the formation of blood clots (thromboembolic events) and infection in individuals with minimal change disease. It is recommended that individuals with minimal change disease stay active and should a blood clot occur, they may be treated with blood thinners. Infections, such as cellulitisperitonitis, and pneumonia are common in individuals with minimal change disease and should be treated quickly.[5]

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 Supporting this Disease

    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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Minimal change disease. Click on the link to view a sample search on this topic.

          References

          1. Meyrier A, Radhakrishnan J. Etiology, clinical features, and diagnosis of minimal change disease in adults. UpToDate. October 30 2017; https://www.uptodate.com/contents/etiology-clinical-features-and-diagnosis-of-minimal-change-disease-in-adults.
          2. National Kidney Foundation. Minimal Change Disease. https://www.kidney.org/atoz/content/minimal-change-disease. Accessed 1/12/2018.
          3. Nephrotic syndrome. MedlinePlus. 8/1/2017; https://medlineplus.gov/ency/article/000490.htm.
          4. Meyrier A. Treatment of minimal change disease in adults. UpToDate. July 5, 2016; https://www.uptodate.com/contents/treatment-of-minimal-change-disease-in-adults.
          5. Mansur A, Georgescu F, Lew S. Minimal-Change Disease. Medscape. July 30, 2017; https://emedicine.medscape.com/article/243348.

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