FANCONI BICKEL SYNDROME PDF

0 Comments

ORPHA Synonym(s). Bickel-Fanconi glycogenosis; Fanconi-Bickel disease; GSD due to GLUT2 deficiency; GSD type 11; GSD type XI; Glycogen storage. Fanconi-Bickel syndrome (FBS) is a rare inherited glycogen storage disease ( GSD) caused by defects in facilitative Glucose Transporter (GLUT2) gene that. NIH Rare Diseases: Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the.

Author: Mikagis Kajilkree
Country: Bahamas
Language: English (Spanish)
Genre: Spiritual
Published (Last): 1 May 2013
Pages: 244
PDF File Size: 20.52 Mb
ePub File Size: 10.2 Mb
ISBN: 953-5-72099-355-8
Downloads: 3026
Price: Free* [*Free Regsitration Required]
Uploader: Tygojinn

September 12, ; Accepted date: July 26, ; Stndrome date: J Clin Case Rep 6: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Visit for more related articles at Journal of Clinical Case Reports. Fanconi-Bickel syndrome FBS is a rare inherited glycogen storage disease GSD caused by defects in facilitative Glucose Transporter GLUT2 gene that codes for the fahconi transporter protein 2 expressed in hepatocytespancreatic beta cells, enterocytes, and renal tubular cells.

The clinical picture is characterized by glycogen accumulation in liver and kidney resulting in hepatomegaly and nephromegaly, impaired utilization of glucose and galactose, proximal renal tubular acidosis, hypophosphatemia rickets, and short stature.

This is an autosomal recessive disorder discovered in and the pathogenic mutation of GLUT 2 gene of hepatocytes, beta cells of pancreas and renal tubules were discovered in An 8 month old male child, product of consanguineous marriage belonging to far flung area presented with progressive abdominal distension from 3 months.

Patient was born at term, appropriate for gestational age birth weight 2. Supplemental feeds were started 2 months back in the form of cereals and banana.

  IL RESTO DI NIENTE ENZO STRIANO PDF

Fanconi Bickel Syndrome: A Rare Entity

There was no history of seizures, jaundice, pedal edema, cataractand polyuria. Liver span was 12 cm.

Rest of the examination was normal. In view of rickets hepatomegaly, failure to thrive, doll like face and developmental delay, a possibility of Fanconi-Bickel disease was made and patient was extensively evaluated for the above disorder.

Investigations revealed normal serum calcium 9. ABG analysis revealed compensated metabolic acidosis facnoni 7.

Serum sodium and potassium were normal. Radiological, bone survey revealed diffuse osteopenia with rachitic triad; cupping, fraying and widening of metaphysical ends Figure 1. Liver biopsy showed accumulation of glycogen in the hepatocytes. So a case of Fanconi- Bickel disorder was confirmed based on above symptoms and laboratory investigations.

Radiological, bone survey revealed diffuse osteopenia with rachitic triad; cupping, fraying and widening of metaphysical ends. The use of corn starch in his diet was also recommended. Child is under follow-up from 3 months, his serum phosphorous and alkaline phosphatase improved however patient still is lagging in development with no improvement in growth failure. Fanconi-Bickel syndrome is a rare metabolic disorder of hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose [ 34 ], first described in by Guido Fanconi and Horst Bickel.

The gene was localized to human chromosome 3q Patients usually presents early in life with rickets and hepatomegaly. By two years of age enlarged kidneys are noticeable clinically. Fasting hypoglycemia, hyperglycemia and hypergalactosemia in the post absorptive state, and hyperlipidemia may be present [ 34 ].

Fanconi-Bickel syndrome as an example of marked allelic heterogeneity

Our index case presented at 8 months of age with progressively increasing abdominal distension and rickets. On extensive investigation we documented proximal renal tubular dysfunction in the form of glycosuria, phosphaturia, proteinuria and bicorbonaturia. Liver biopsy also revealed hepatic glycogen accumulation. Long bone X-ray in our patient showed florid rickets. Fanconi Bickel disease has autosomal recessive inheritance and cases have been reported from all parts of Europe, Turkey, Israel, Arabian countries of the Near East and North Africa, Japan, and North America [ 34 ].

  GFL 3005 PDF

In India very few cases have been reported till date and in fact none has been reported from north India. Kashmir is a closed society with wide spread consanguinity, as a result autosomal recessive disorders are quite common here.

Whether these 2 sibs represented severe form of same disorder the question remains unanswered.

In summary we presented a case of Fanconi Bickel syndrome, an 8 month old male child with previous 2 sib deaths presented to us with progressively increasing abdominal distension and rickets.

Patient was found to have proximal RTA and hepatomegaly with liver biopsy confirming hepatic glycogen deposition.

Orphanet: Glycogen storage disease due to GLUT2 deficiency

This is a first case reported in Kashmir where consanguinity is very common. Ann Jose ankara escort. Home Publications Conferences Register Contact. Guidelines Upcoming Special Issues.

Case Report Open Access. Bickfl 30, Citation: Select your language of interest to view the total content in your interested language. Can’t read the image? Agri and Aquaculture Journals Dr. Pharmaceutical Sciences Journals Ann Jose ankara escort.