Fanconi syndrome is a disorder of the kidney tubes in which certain substances normally absorbed into the bloodstream by the kidneys are released into the urine instead.
De Toni-Fanconi-Debré syndrome
Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown.
Common causes of Fanconi syndrome in children are genetic defects that affect the body's ability to break down certain compounds such as:
Cystinosis is the most common cause of Fanconi syndrome in children.
Other causes in children include:
In adults, Fanconi syndrome can be caused by various things that damage the kidneys, including:
Symptoms include:
Many different diseases can cause Fanconi syndrome. The underlying cause and its symptoms should be treated as appropriate.
Elena Levtchenko practices in Leuven, Belgium. Levtchenko is rated as an Elite expert by MediFind in the treatment of Fanconi Syndrome. She is also highly rated in 33 other conditions, according to our data. Her top areas of expertise are Cystinosis, Fanconi Bickel Syndrome, Fanconi Syndrome, Kidney Transplant, and Bone Marrow Transplant.
Robert Kleta practices in London, United Kingdom. Kleta is rated as an Elite expert by MediFind in the treatment of Fanconi Syndrome. He is also highly rated in 28 other conditions, according to our data. His top areas of expertise are Fanconi Syndrome, Fanconi Bickel Syndrome, Aminoaciduria, Proximal Renal Tubular Acidosis, and Bone Marrow Transplant.
Detlef Bockenhauer practices in London, United Kingdom. Bockenhauer is rated as an Elite expert by MediFind in the treatment of Fanconi Syndrome. They are also highly rated in 52 other conditions, according to our data. Their top areas of expertise are Proximal Renal Tubular Acidosis, Primary Tubular Proximal Acidosis, Fanconi Syndrome, Fanconi Bickel Syndrome, and Kidney Transplant.
The prognosis depends on the underlying disease.
Contact your health care provider if you have dehydration or muscle weakness.
Summary: This phase II trial studies how well olaparib works in treating patients with biliary tract cancer that has spread to other places in the body (metastatic) and with aberrant DNA repair gene mutations. Olaparib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth.
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-...
Published Date: January 25, 2022
Published By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Bonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 44.
Foreman JW. Fanconi syndrome and other proximal tubule disorders. In: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Comprehensive Clinical Nephrology. 6th ed. Philadelphia, PA: Elsevier; 2019:chap 48.