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Disease Profile
Fanconi syndrome
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
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.
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.
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.
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.
Not applicable
Other names (AKA)
Primary Fanconi syndrome; Fanconi renotubular syndrome; Primary Fanconi renotubular syndrome
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases
Summary
Fanconi
Symptoms
- 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
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
Diagnosis
Treatment
Specialists involved in the care of someone with Fanconi syndrome may include:
Nephrologist Orthopedist Nutritionist
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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Before the diagnosis of primary Fanconi renotubular syndrome is made all causes of secondary Fanconi syndrome must be ruled out, including both inherited (cystinosis, tyrosinemia type I, fructosemia, Wilson's disease, galactosemia, glycogen storage disease, Dent's disease, Lowe's syndrome, arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, mitochondrial cytopathies) and acquired disorders (drug or heavy metal poisoning, malignancies).
Visit the Orphanet disease page for more information.
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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
- Foreman JW. Fanconi Syndrome. Pediatr Clin North Am. Feb 2019; 66(1):159-167. https://pubmed.ncbi.nlm.nih.gov/30454741.
- 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.
- 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.
- 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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