Fanconi Syndrome Questions & Answers

Updated: Feb 09, 2018
  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
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Questions & Answers

Overview

What is the historical background of Fanconi syndrome?

What is the pathophysiology of Fanconi syndrome?

What is the pathophysiology of cystinosis in Fanconi syndrome?

What is the role of genetics in Fanconi syndrome?

How common is Fanconi syndrome in the US?

What is the morbidity of Fanconi syndrome?

What is the racial predilection of Fanconi syndrome?

Is Fanconi syndrome more common in males or females?

What is the age of onset of Fanconi syndrome?

Presentation

What are the typical presenting symptoms of Fanconi syndrome?

Which chemical imbalances are found in Fanconi syndrome?

What are the characteristic physical findings in Fanconi syndrome?

What is the role of heredity in Fanconi syndrome?

What causes Fanconi syndrome?

What causes cystinosis in Fanconi syndrome?

What posttransplantation complications occur in Fanconi syndrome?

What causes galactosemia in Fanconi syndrome?

What is the pathogenesis of Fanconi syndrome?

What causes type I tyrosinemia in Fanconi syndrome?

What is the role of glycogen-storage diseases in Fanconi syndrome?

What is the role of Wilson disease in Fanconi syndrome?

What is the role of Lowe disease in Fanconi syndrome?

Which genetic disorders are known causes of Fanconi syndrome?

What is the role of heavy metal exposure in Fanconi syndrome?

Which pharmaceuticals are known to cause Fanconi syndrome?

Which blood disorders cause Fanconi syndrome?

What are the immunologic causes of Fanconi syndrome?

DDX

What are the diagnostic considerations in Fanconi syndrome?

Workup

Which lab studies are indicated in the workup of Fanconi syndrome?

Which imaging studies are indicated in the workup of Fanconi syndrome?

What are the histologic findings in Fanconi syndrome?

Treatment

What is the medical care for patients with Fanconi syndrome?

What is the role of transplantation in the treatment of Fanconi syndrome?

Which specialist consultations are indicated in the treatment of Fanconi syndrome?

What are the dietary recommendations for patients with Fanconi syndrome?

What activity restrictions are indicated in the treatment of Fanconi syndrome?

Medications

Which medications are indicated in the treatment of Fanconi syndrome?

Which medications in the drug class Tyrosine Degradation Inhibitor are used in the treatment of Fanconi Syndrome?

Which medications in the drug class Chelating agents are used in the treatment of Fanconi Syndrome?

Which medications in the drug class Cystine-lowering Agents are used in the treatment of Fanconi Syndrome?

Follow-up

What is the long-term monitoring of patients with Fanconi syndrome?

How is Fanconi syndrome prevented?

What is the prognosis of Fanconi syndrome?

What educational information should be provided to parents of patients with Fanconi syndrome?