@2024 Afarand., IRAN
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2017;1(2):
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2017;1(2):
Osteogenesis Imperfecta or Fanconi-Bickel Syndrome? (Report of a Very Rare Disease Due to New Mutation on GLUT2 Gene)
ARTICLE INFO
Article Type
Case ReportAuthors
Shafeghati Y. (*)Sarkheil P. (1)
Baghdadi T. (2)
Hadipour F. (3)
Hadipour Z. (3)
Noruzinia M. (4)
(*) “Sarem Fertility & Infertility Research Center (SAFIR)” and “Sarem Cell Research Center (SCRC)”, Sarem Hospital, Tehran, Iran
(1) Genetics Department, Sarem Women’s Hospital, Tehran, Iran
(2) Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran
(3) "Sarem Fertility & Infertility Research Center (SAFIR)”, “Genetics Department” and “Sarem Cell Research Center (SCRC)", Sarem Women’s Hospital, Tehran, Iran
(4) Medical Genetics Department, Medical Sciences, Tarbiat Modares University, Tehran, Iran
Correspondence
Address: -Phone: -
Fax: -
dr.yshafagh@gmail.com
Article History
Received: January 11, 2016Accepted: May 18, 2016
ePublished: June 15, 2016
ABSTRACT
Information & Methods
Fanconi-Bickel disease is a rare disorder in the metabolism of carbohydrates. The disease is transmitted by heredity recessive autosomi. Somebodies have classified this diease as a glycogenosis that does not appear to be correct, because the cause of this disease not a disorder in the metabolism of glycogen, realy it is due to impairment of saccarides transfer into the membranous GLUT2 channel. The properties consist of: hepatorenal glycogenose, proximal RTA, impaired glucose and galactose consumption, manage resistant hypophosphatemic rickets and delay the growth resulting from it. But being non-typical cues could wrongly lead to another initial diagnosis like osteogenesis imperfecta.
3.5-year-old girl with the probable diagnosis of osteogenesis imperfecta was admitted for periodical treatment by pamydronat. The child resulting from consanguineous marriages and in history of pregnancy and maternity there was not any problem. Because of the delay in motion and repeated fractures, suspicion to osteogenesis imperfecta disease was initially raised. In the follow up of the next turned the patient revealed resistant rickets. Gradually hepatomegaly appearead and the biopsy emphasized glycogen accumulation. Then gradually renal affliction -fanconi syndrome and RTA- were revealed.
Conclusion According to the mentioned symptoms, the very rare diseases Fanconi-Bickel syndrome was raised for the patient. By molecular Study on operating gene called Glucose transporter 2 (GLUT2), this disease was confirmed. This type of mutant is recognized for the first time that has not already been reported in medical resources.
Conclusion According to the mentioned symptoms, the very rare diseases Fanconi-Bickel syndrome was raised for the patient. By molecular Study on operating gene called Glucose transporter 2 (GLUT2), this disease was confirmed. This type of mutant is recognized for the first time that has not already been reported in medical resources.
CITATION LINKS
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[7]Takeda J, Kayano T, Fukomoto H, Bell GI. Organization of the human GLUT2 (pancreatic beta-cell and hepatocyte) glucose transporter gene. Diabetes. 1993;42(5):773-7.
[8]Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, et al. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. Pediatric research. 2000;48(5):586-9.
[9]Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet. 2002;110(1):21-9.
[2]Santer R, Steinmann B, Schaub J. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. Curr Mol Med. 2002;2(2):213-27.
[3]Manz F, Bickel H, Brodehl J, Feist D, Gellissen K, Gescholl- Bauer B, et al. Fanconi-Bickel syndrome. Pediatr Nephrol. 1987;1(3):509-18.
[4]Berry GT, Baker L, Kaplan FS, Witzleben CL. Diabeteslike renal glomerular disease in Fanconi-Bickel syndrome. Pediatr Nephrol. 1995;9(3):287-91.
[5]Odievre M. Hepato-renal glycogenosis with complex tubulopathy. 2. Cases of a new entity. Rev Int Hepatol. 1966;16(1):1-70. [French]
[6]Fukumoto H, Seino S, Imura H, Seino Y, Eddy RL, Fukushima Y, et al. Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporterlike protein. Proc Natl Acad Sci U S A. 1988; 85(15):5434-8.
[7]Takeda J, Kayano T, Fukomoto H, Bell GI. Organization of the human GLUT2 (pancreatic beta-cell and hepatocyte) glucose transporter gene. Diabetes. 1993;42(5):773-7.
[8]Sakamoto O, Ogawa E, Ohura T, Igarashi Y, Matsubara Y, Narisawa K, et al. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. Pediatric research. 2000;48(5):586-9.
[9]Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet. 2002;110(1):21-9.