Rare Gastroenterology News

Disease Profile

Fanconi syndrome

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

Infancy

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ICD-10

E72.0

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.

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)

Primary Fanconi syndrome; Fanconi renotubular syndrome; Primary Fanconi renotubular syndrome

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

Fanconi syndrome (FS) affects the way the kidneys work. In FS, the kidneys do not properly absorb electrolytes and other substances into the body. Symptoms can begin at any age. They may include slow growth, fragile bones, frequent urination, and dehydration. Other symptoms include weakness, tremors, and fatigue. FS can occur as an isolated condition or as part of other diseases. Isolated FS may be caused by genetic variants in one of several different genes, and can be inherited in families. FS can also occur as part of another condition or as a side effect of certain medications and other environmental exposures. Diagnosis is based on the symptoms, clinical exam, and urine testing. Treatment depends on the cause, and is focused on managing the symptoms.[1][2][3][4]

Symptoms

The following list includes the most common signs and symptoms in people with Fanconi syndrome (FS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:[1][4]

  • Excess protein and other nutrients in the urine
  • Growth delay
  • Dehydration
  • Thirst
  • Fatigue
  • Muscle weakness

FS may cause soft, weak bones, known an rickets in children and osteomalacia in adults. This can lead to bone pain and fractures. Lack of absorption of potassium can lead to tremor, numbness, and tingling. In some cases, FS can sometimes lead to kidney failure.[1]

Cause

Fanconi syndrome (FS) can occur by itself (isolated FS) or along with other inherited conditions. Isolated FS can be caused by the EHHADH, SLC34A1, GATM, or NDUFAF6 gene not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.

In many cases, FS occurs a part of another inherited condition. Cystinosis is the most common inherited condition associated with FS.[1][2]

FS can also be caused by environmental causes, such as heavy metals, drugs used in chemotherapy, and some other chemicals.[1][2]

Diagnosis

Fanconi syndrome is diagnosed based on the symptoms, clinical exam, and urine testing. People with Fanconi syndrome may have abnormally high amounts of protein, glucose, potassium, and salts in their urine.[4]

Treatment

Treatment for Fanconi syndrome depends on the cause, and is focused on managing the symptoms. In general, treatment involves maintaining fluid balance through replacement of the nutrients lost in the urine. In severe cases, some people may develop kidney failure and need a kidney transplant.[1][4]

Specialists involved in the care of someone with Fanconi syndrome may include:

  • Nephrologist
  • Orthopedist
  • Nutritionist

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.

In-Depth Information

  • 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.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Fanconi syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • 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 Fanconi syndrome. Click on the link to view a sample search on this topic.

References

  1. Foreman JW. Fanconi Syndrome. Pediatr Clin North Am. Feb 2019; 66(1):159-167. https://pubmed.ncbi.nlm.nih.gov/30454741.
  2. Kashoor I, Batlle D. Proximal renal tubular acidosis with and without Fanconi syndrome. Kidney Res Clin Pract. Sep 30, 2019; 38(3):267-281. https://pubmed.ncbi.nlm.nih.gov/31474092.
  3. Klootwijk ED, Reichold M, Unwin RJ, Kleta R, Warth R, Bockenhauer D. Renal Fanconi syndrome: taking a proximal look at the nephron. Nephrol Dial Transplant.. Sep 2015; 30(9):1456-60. https://pubmed.ncbi.nlm.nih.gov/25492894.
  4. Keefe P, Bokhari SRA. Fanconi Syndrome. In: StatPearls [Internet]. Treasure Island (FL). Updated Jan 10, 2020; https://pubmed.ncbi.nlm.nih.gov/30521293.

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