What is the Difference Between Fanconi Anemia and Fanconi Syndrome

The key difference between Fanconi anemia and Fanconi syndrome is that Fanconi anemia affects the bone marrow, decreasing the production of all types of blood cells, while Fanconi syndrome affects the kidney, resulting in inadequate re-absorption in the proximal renal tubules.

Fanconi anemia and Fanconi syndrome are two medical conditions named after Dr Guido Fanconi. Guido Fanconi was a Swiss paediatrician who was born in 1892 in Psoschiavo, a small village in the Canton of Grisons. He is regarded as one of the best pediatricians of all time. He is also one of the founders of modern pediatrics. There are several medical diseases named after Dr Guido Fanconi. In 1927, he described the hereditary Fanconi anemia for the first time. Fanconi syndrome, on the other hand, was described by an investigator known as Abdelhalden in 1903. However, Fanconi reported Fanconi syndrome with additional supportive documents in 1936. Eventually, the disease came to be known as Fanconi syndrome.

CONTENTS

1. Overview and Key Difference
2. What is Fanconi Anemia  
3. What is Fanconi Syndrome
4. Similarities – Fanconi Anemia and Fanconi Syndrome
5. Fanconi Anemia vs Fanconi Syndrome in Tabular Form
6. Summary – Fanconi Anemia vs Fanconi Syndrome

What is Fanconi Anemia?

Fanconi anemia is a rare hereditary bone marrow failure syndrome. Approximately 2000 cases have been documented in the medical literature. It is a genetic disease occurring due to impaired response to DNA damages. Fanconi anemia is an autosomal recessive genetic disorder. Two mutated alleles should be present in order to cause Fanconi anemia in patients. 2% of cases are due to X-linked recessive cases, meaning that the mutated alleles are present in the X chromosome. Up to now, scientists have discovered 21 FA or FA like genes. Some of them are FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCF, etc. These genes are DNA repair genes. The carrier frequency in Ashkenazi Jewish is about one in 90.

Fanconi anemia is normally characterized by bone marrow failure, solid tumors, and developmental abnormalities. The diagnosis can be made through genetic counselling and genetic testing. The treatments include androgens and hematopoietic (blood cell) growth factors for bone marrow failure, bone marrow transplant, and mitomycin C for solid tumors.

What is Fanconi Syndrome?

Fanconi syndrome is an inherited or acquired disorder in which certain substances absorbed into the blood through kidneys are released into the urine. It is a syndrome that results in inadequate re-absorption in the proximal renal tubules. Fanconi syndrome affects the proximal convoluted tubule, which is the first part of the tubule that processes urine fluid once it is filtered through the glomerulus. It also can affect the proximal straight tubule that leads to descending limb of the loop of Henle.

A specific mutation in the HNF4A gene encoding transcription factor can cause Fanconi anemia. Other genetic conditions such as cystinosis, Wilsons’s disease, tyrosinemia, Lowe syndrome, galactosemia, hereditary fructose intolerance can also cause Fanconi syndrome. It can be acquired due to tetracycline, antiviral tenofovir, didanosine, and lead poisoning. Moreover, Fanconi syndrome can be acquired due to other medical conditions like multiple myeloma, monoclonal gammopathy and autoimmune disorders. Symptoms include polyuria, growth failure, acidosis, hypokalaemia, hyperchloremia, glycosuria, proteinuria, hyperuricosuria, etc. The diagnosis is through a urine routine. The treatment of children with Fanconi syndrome mainly involves the replacement of substances that are lost in urine, such as fluid and bicarbonate

What are the Similarities Between Fanconi Anemia and Fanconi Syndrome?

• Fanconi anemia and Fanconi syndrome are two medical conditions named after Dr Guido Fanconi.
• Both conditions can be inherited.
• Both conditions can be mainly observed in children.
• They are treatable medical conditions.

What is the Difference Between Fanconi Anemia and Fanconi Syndrome?

Fanconi anemia affects the bone marrow that decreases the production of all types of blood cells, while Fanconi syndrome affects the kidney that results in inadequate re-absorption in the proximal renal tubules. So, this is the key difference between Fanconi anemia and Fanconi syndrome. Furthermore, Fanconi anemia is an inherited medical condition while Fanconi syndrome can be an inherited or acquired medical condition.

The following infographic lists the differences between Fanconi anemia and Fanconi syndrome in tabular form for side by side comparison.

Summary – Fanconi Anemia vs Fanconi Syndrome

Fanconi anemia and Fanconi syndrome are two rare medical conditions. Fanconi anemia affects bone marrow. This disease decreases the production of all types of blood cells. Fanconi syndrome affects kidneys. It causes an inadequate re-absorption in the proximal renal tubules. Fanconi anemia is an inherited disease. Fanconi syndrome can be inherited or acquired. Thus, this is a summary of the difference between Fanconi anemia and Fanconi syndrome.

Reference:

1. “Fanconi Anemia: Causes, Symptoms, DIAGNOSIS, TREATMENT.” WebMD, WebMD.
2. “Fanconi Syndrome.” An Overview | ScienceDirect Topics.

Image Courtesy:

1. “DNA double-strand break repair”  By Chaya5260 – Own work (CC BY-SA 4.0) via Commons Wikimedia
2. “Proximal convoluted tubule” By M. Koeppen – (CC BY-SA 4.0) via Commons Wikimedia