| Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. | |
| | |
MedLine Citation:
|
PMID: 21271664 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Fanconi–Bickel syndrome (FBS, OMIM #227810) is a rare autosomal recessive disorder of carbohydrate transport originally described in 1949 [Fanconi and Bickel(1949);Helv Paediatr Acta 4: 359–396]. FBS is caused by mutations in the glucose and galactose transporter gene SLC2A2 (HGNC ID11006) [Santeret al.(1997); Nat Genet 17: 324–326] and is characterized by hepatic glycogen accumulation with hepatomegaly, fasting hypoglycemia, short stature, impaired glucose tolerance, hyperlipidemia, and tubular nephropathy. Although the described complications would not seem to preclude fertility in FBS patients, there has been no report of reproduction in affected individuals to date. We have followed a female with FBS for at least 20 years. She received a clinical diagnosis in adolescence, with recent molecular confirmation of two mutations in trans in the SLC2A2 gene. She has had glucosuria, proteinuria, impaired tubular reabsorption of phosphate, osteopenia, and hypercholesterolemia throughout her life, without any documented episodes of hypoglycemia. Hepatomegaly was initially noticed in infancy and resolved in late adolescence. She became pregnant at 31 years of age, had gestational diabetes treated with diet, and delivered a healthy boy. She had impaired glucose tolerance after her pregnancy.Her adult height was at the lower end of her target height range, and she had evidence of localized osteopenia at the left distal radius on DXA scan. This report describes the clinical history of an affected individual and highlights the importance of continued follow-up in order to extend our understanding of the history of this rare metabolic disorder. |
| | |
Authors:
|
Loren Pena; Joel Charrow |
Related Documents
:
|
12894044 - Gall stone in pregnancy. 3914104 - Influence of pulse-wave ultrasonic irradiation on the prenatal development of mouse. 2143644 - Antenatal diagnosis of abdominal wall defects: a missed opportunity? 6849344 - Fetoscopic visualization in second-trimester pregnancies. 18442694 - Krackow locking stitch versus nonlocking premanufactured loop stitch for soft-tissue fi... 17587444 - Do intrauterine or genetic influences explain the foetal origins of chronic disease? a ... |
Publication Detail:
|
Type: Case Reports; Journal Article Date: 2011-01-13 |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 155A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2011 Feb |
Date Detail:
|
Created Date: 2011-01-28 Completed Date: 2011-05-20 Revised Date: 2011-10-31 |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 415-7 Citation Subset: IM |
Copyright Information:
|
© 2011 Wiley-Liss, Inc. |
Affiliation:
|
The University of Chicago, Chicago, Illinois, USA. |
| Data Bank Information | |
Bank Name/Acc. No.:
|
OMIM/227810 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Diabetes, Gestational / pathology Fanconi Syndrome / blood, genetics, pathology, physiopathology Female Glucose Tolerance Test Glucose Transporter Type 2 / genetics* Humans Longitudinal Studies Male Phenotype* Pregnancy Pregnancy Outcome |
| Chemical | |
Reg. No./Substance:
|
0/Glucose Transporter Type 2; 0/SLC2A2 protein, human |
| Comments/Corrections | |
Comment In:
|
Am J Med Genet A. 2011 Oct;155A(10):2607
[PMID:
21910231
]
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasi...
Next Document: Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, th...