Fanconi-Bickel syndrome

Classification according to ICD-10
E74.0	Glycogen storage disease [glycogenosis]
ICD-10 online (WHO version 2019)

The Fanconi Bickel Syndrome is a rare congenital glycogen storage based on a GLUT-2 -Defekt.

Synonyms are:

Glycogenosis type XI
Glycogen Storage Disease Type XI (or Type 11)
Bickel-Fanconi glycogenosis
GSD type XI
GSD due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
Amino acid diabetes
Fanconi syndrome

The disease is named after the person who first described it in 1949, the Swiss pediatrician Guido Fanconi and the Hamburg doctor Horst Bickel .

distribution

The disease is autosomal - recessive inherited. The frequency is not known; a few hundred cases have been described so far.

root cause

The disease is caused by homozygous or mixed heterozygous mutations in the GLUT-2 gene (SLC2A2; 3q26.1-q26.3).

clinic

The disease is characterized by glyocogen storage in the liver with consecutive hepatomegaly and the kidneys with severe tubular renal dysfunction and impaired glucose and galactose metabolism. The disease is already evident in the first months of life due to failure to thrive , polyuria and (kidney-related) rickets , later short stature , renal osteopathy with osteoporosis and hepatosplenomegaly come to the fore.

diagnosis

Clinically, the symptoms are groundbreaking along with signs of rickets on the X-ray and the laboratory findings with glucosuria, proteinuria, phosphaturia, hypophosphataemia, aminoaciduria and hyperuricaemia. In biopsies , the histology shows liver steatosis and glycogen storage in the hepatocytes and the proximal tubular cells of the kidneys.

The diagnosis can be confirmed by the detection of mutations in the SLC2A2 gene. Antenatal diagnosis is possible in families with known SLC2A2 mutations.

Differential diagnosis

The most important differential diagnosis is glycogen storage disease type IA ( Von Gierke disease ) and the other forms of glycogen storage disease.

therapy

The treatment tries to control the kidney problem by substituting water and electrolytes. In addition, the administration of is vitamin D and phosphate necessary.

Prospect of healing (prognosis)

Renal tubulopathy does not appear to worsen to renal insufficiency.

literature

HC Koch, R. Mallmann: Fanconi-Bickel Syndrome. In: Clinical Pediatrics. Volume 202, No. 6, November-December 1990, pp. 422-426, ISSN 0300-8630 . doi : 10.1055 / s-2007-1025559 . PMID 2266709 .

Individual evidence

↑ ^a ^b ^c ^d ^e ^f ^g Fanconi-Bickel syndrome. In: Orphanet (Rare Disease Database).
↑ Ludwig Weissbecker: The amino acid diabetes (Fanconi syndrome). In: Ludwig Heilmeyer (ed.): Textbook of internal medicine. Springer-Verlag, Berlin / Göttingen / Heidelberg 1955; 2nd edition, ibid. 1961, p. 1115.
↑ G. Fanconi, H. Bickel: The chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogenosis and cystine disease. In: Helvetica paediatrica acta. Volume 4, No. 5, November 1949, pp. 359-396, ISSN 0018-022X . PMID 15397919 .
↑ Who named it

Web links

Fanconi-Bickel syndrome. In: Online Mendelian Inheritance in Man . (English)

[Orpha-1] ↑ ^a ^b ^c ^d ^e ^f ^g Fanconi-Bickel syndrome. In: Orphanet (Rare Disease Database).

[2] Ludwig Weissbecker: The amino acid diabetes (Fanconi syndrome). In: Ludwig Heilmeyer (ed.): Textbook of internal medicine. Springer-Verlag, Berlin / Göttingen / Heidelberg 1955; 2nd edition, ibid. 1961, p. 1115.

[3] G. Fanconi, H. Bickel: The chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogenosis and cystine disease. In: Helvetica paediatrica acta. Volume 4, No. 5, November 1949, pp. 359-396, ISSN 0018-022X . PMID 15397919 .

[4] Who named it