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The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.
Fanconi syndrome
Fanconi Renotubular SyndromeDe Toni-Fanconi syndrome
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Overview
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.
Trusted Medical Sites
Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Support Organizations
Support organizations can provide help and guidance in areas such as peer matching, education and training, and therapy and counseling.
Disease Resources
Resources can help guide your quest for factual and reliable information.
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The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria.
This 100-page handbook helps answer many questions for children with Progeria about how to optimize quality of life through daily care and medical treatment. Contains basic health facts,daily care recommendations and extensive treatment guidelines.
AAMDSIF Online Academy (webinars)
200+ FREE webinars for patients, families and caregivers about rare blood cancers and bone marrow failure diseases.
Educational Resources
Publications, links to patient conferences and webinars
Disease Information
Descriptions of various rare blood cancers and bone marrow failure diseases.