Fanconi syndrome

Common Name(s)

Fanconi syndrome, Fanconi Renotubular Syndrome, De Toni-Fanconi syndrome

Fanconi syndrome is a condition where the tubes of the kidneys do not function properly. The function of the kidney tubes is to reabsorb vitamins, minerals, and sugars back into the body to be reused. However, in Fanconi syndrome, the absorption does not occur and the nutrients go directly to the urine. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and bone pains. Diagnosis can be confirmed by looking for excess levels of certain nutrients in the urine. The most common cause of Fanconi sydrome in children is cystinosis (for more information, visit Cystinosis.), but other genetic or inherited defects that affect the body's ability to break down certain compounds will also cause Fanconi syndrome. Fanconi syndrome may also develop later in life due to side effects from medication, lead poisoning, multiple myeloma or due to unknown causes. There is currently no cure for Fanconi syndrome, but treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine. Talk to your child's pediatrician or appropriate specialists to discuss the best treatment plan. If Fanconi syndrome occurs as an adult, treatment varies dependent on the cause. Again, talk to your doctor or specialist if you or a family member is diagnosed with Fanconi syndrome.

Source: Advocacy organizations associated with the condition.

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Advocacy and Support Organizations Health Questions Recommended Apps Scientific Literature Symptoms, Diagnosis, and Treatment Clinical Trial Information
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi syndrome" for support, advocacy or research.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fanconi syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Recommended Apps

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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

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Relief is when you and the right researcher find each other

Finding the right clinical trial for Fanconi syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fanconi syndrome" returned 112 free, full-text research articles on human participants. First 3 results:

Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report.
 

Author(s): Haiyan Tu, Lijun Mou, Lina Zhu, Qifeng Jiang, Dave Schwinn Gao, Ying Hu

Journal: Medicine (Baltimore). 2018 Sep;97(36):e12027.

 

Renal Fanconi syndrome (FS) is a rare complication of monoclonal gammopathy. It is characterized by the impairment of renal proximal tubular function leading to normoglycemic glycosuria, aminoaciduria, hypophosphatemia, hypouricemia and proximal renal tubular acidosis. Renal impairment ...

Last Updated: 31 Dec 1969

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Pathologic femoral fracture due to tenofovir-induced Fanconi syndrome in patient with chronic hepatitis B: A case report.
 

Author(s): You-Sung Suh, Dong-Il Chun, Sung-Woo Choi, Hwan-Woong Lee, Jae-Hwi Nho, Soon-Hyo Kwon, Jae-Ho Cho, Sung Hun Won

Journal: Medicine (Baltimore). 2017 Nov;96(46):e8760.

 

We report a case of a hepatitis B virus (HBV)-positive patient with preexisting bone disease who developed tenofovir-induced Fanconi syndrome and subsequently sustained pathologic fracture. To our best knowledge, this is the first report in the English literature about pathologic ...

Last Updated: 31 Dec 1969

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Kidney failure caused by tubular intersticial intersticial nephropathy with Fanconi syndrome after treatment with zoledronic acid.
 

Author(s): M José Gutiérrez Sánchez, Vladimir Petkov Stoyanov, Luis Pedraza Cezón, Juan A Martín Navarro

Journal: Nefrologia. ;37(6):660-661.

 

Last Updated: 31 Dec 1969

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To view other free, full-text articles on human participants, please click on the link below.

PubMed Article Results at NCBI: 112 article(s)

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fanconi syndrome" returned 8 free, full-text review articles on human participants. First 3 results:

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.
 

Author(s): Stephanie Cherqui, Pierre J Courtoy

Journal: Nat Rev Nephrol. 2017 Feb;13(2):115-131.

 

Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. It is caused by a defect in the lysosomal cystine transporter, cystinosin, which results in an accumulation of cystine in all organs. Despite the ubiquitous expression ...

Last Updated: 31 Dec 1969

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Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.
 

Author(s): Nicholas E Mamrak, Akiko Shimamura, Niall G Howlett

Journal: Blood Rev.. 2017 05;31(3):93-99.

 

Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33years. The proteins encoded ...

Last Updated: 31 Dec 1969

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Sjögren's syndrome complicated with Fanconi syndrome and Hashimoto's thyroiditis: Case report and literature review.
 

Author(s): Mingmin Shi, Lei Chen

Journal: J. Int. Med. Res.. 2016 Jun;44(3):753-9.

 

We report a unique case of Sjögren's syndrome complicated with Fanconi syndrome and Hashimoto's thyroiditis in a 53-year-old Chinese woman, initially found to have proteinuria, fatigue and multiple old costal fractures. Distal tubular dysfunction is the most common renal damage in ...

Last Updated: 31 Dec 1969

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To view other free, full-text review articles on human participants, please click on the link below.

PubMed Review Results at NCBI: 8 review(s)

 
 
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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
https://ghr.nlm.nih.gov/condition/fanconi-anemia
https://ghr.nlm.nih.gov/condition/cystinosis
https://ghr.nlm.nih.gov/gene/FANCB
https://ghr.nlm.nih.gov/gene/FANCF
https://ghr.nlm.nih.gov/gene/FANCE
https://ghr.nlm.nih.gov/gene/FANCM
https://ghr.nlm.nih.gov/gene/SLC2A2
https://ghr.nlm.nih.gov/gene/FANCD2
https://ghr.nlm.nih.gov/gene/FANCI
https://ghr.nlm.nih.gov/gene/FANCL
https://ghr.nlm.nih.gov/gene/FANCG
https://ghr.nlm.nih.gov/gene/FANCC
https://ghr.nlm.nih.gov/gene/FANCA
https://ghr.nlm.nih.gov/gene/RAD51C
https://ghr.nlm.nih.gov/gene/SLX4
https://ghr.nlm.nih.gov/gene/UBE2T
https://ghr.nlm.nih.gov/condition/lowe-syndrome
https://ghr.nlm.nih.gov/primer/dtcghrpages
https://ghr.nlm.nih.gov/condition/dent-disease
https://ghr.nlm.nih.gov/gene/SLC34A1
Full Results at Genetics Home Reference: 1721 matches

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pilot Study of Metformin for Patients With Fanconi Anemia
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 24 Apr 2018

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FANCA Gene Transfer for Fanconi Anemia Using a High-safety, High-efficiency, Self-inactivating Lentiviral Vector
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 14 May 2018

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Quercetin in Children With Fanconi Anemia; a Pilot Study
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 4 May 2018

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According to ClinicalTrials.gov there are currently 23 additional "open" studies for "Fanconi syndrome" (open studies are recruiting volunteers) and 86 "Fanconi syndrome" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
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Relief is when you and the right researcher find each other
Finding the right clinical trial for Fanconi syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Learn More