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.

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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General Support Organizations

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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 102 free, full-text research articles on human participants. First 3 results:

Fanconi Anemia and Laron Syndrome.
 

Author(s): Inma Castilla-Cortazar, Julieta Rodriguez de Ita, Gabriel Amador Aguirre, Fabiola Castorena-Torres, Jesús Ortiz-Urbina, Mariano García-Magariño, Rocío García de la Garza, Carlos Diaz Olachea, Martha Irma Elizondo Leal

Journal: Am. J. Med. Sci.. 2017 May;353(5):425-432.

 

Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby ...

Last Updated: 15 May 2017

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[A Case of Tenofovir-associated Fanconi Syndrome in Patient with Chronic Hepatitis B].
 

Author(s): Dongwoo Kim, Jongjin Lee, Dae Ha Kim, Kyuho Kang, Sang Jun Suh, Young Kul Jung, Hyung Joon Yim

Journal: Korean J Gastroenterol. 2016 Dec;68(6):317-320.

 

Tenofovir disoproxil fumarate (TDF) is one of the most widely used treatment options for human immunodeficiency virus (HIV) and HBV infections. Despite its efficacy and safety, some cases of nephrotoxicity have been reported in the treatment of HIV patients. Even more recently, very ...

Last Updated: 27 Dec 2016

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Fanconi Syndrome Associated with Hyponatremia in Two Patients with Legionella Pneumonia.
 

Author(s): Akihiro Ryuge, Yasuhiko Ito, Taishi Yamakawa, Hitoshi Tanaka, Hirotoshi Yasui, Shuko Mashimo, Kenshi Watanabe, Rie Nomura, Nobukazu Suganuma, Shoichi Maruyama

Journal: Intern. Med.. ;55(23):3479-3484.

 

Legionella pneumophila is a cause of community-acquired pneumonia that is reported to induce electrolyte disorders, including hyponatremia, hypokalemia, and hypophosphatemia. We herein report two Japanese men with Legionella pneumonia and hyponatremia and hypophosphatemia. These findings ...

Last Updated: 1 Dec 2016

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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 6 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: 19 Dec 2016

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A case report of deferasirox-induced kidney injury and Fanconi syndrome.
 

Author(s): Noreen Murphy, Mohsen Elramah, Hemender Vats, Weixong Zhong, Micah R Chan

Journal: WMJ. 2013 Aug;112(4):177-80.

 

Cases of kidney injury associated with the use of deferasirox chelation therapy during the course of treatment for iron overload have been reported infrequently. We present the case of a patient treated with deferasirox who had biopsy-proven tubular injury in the setting of clinical ...

Last Updated: 16 Apr 2014

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Ifosfamide-induced Fanconi syndrome with diabetes insipidus.
 

Author(s): Ah Young Leem, Han Sang Kim, Byung Woo Yoo, Beo Deul Kang, Min Hwan Kim, Sun Young Rha, Hyo Song Kim

Journal: Korean J. Intern. Med.. 2014 Mar;29(2):246-9.

 

Ifosfamide-induced Fanconi syndrome is a rare complication that typically occurs in young patients due to a cumulative dose of ifosfamide > 40-60 g/m(2), a reduction in kidney mass, or concurrent cisplatin treatment. It is usually characterized by severe and fatal progression accompanied ...

Last Updated: 20 Mar 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 17 Feb 2017

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Last Updated: 28 Mar 2017

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Quercetin in Children With Fanconi Anemia; a Pilot Study
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 5 Jul 2017

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