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Phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5
- Source :
- Journal of Diabetes Investigation, Vol 10, Iss 4, Pp 1112-1115 (2019), Journal of Diabetes Investigation
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
-
Abstract
- Here, we report phenotypic differences and similarities of monozygotic twins with maturity‐onset diabetes of the young type 5 harboring a partial deletion of chromosome 17q12. The proband and her twin sister manifested complete aplasia and marked hypoplasia, respectively, of the body and tail of the pancreas. Whereas both twins showed marked hypoplasia of the right kidney and multiple cysts in both kidneys, only the proband's sister showed hydronephrosis in the left kidney. The proband had profound defects in insulin and glucagon secretion, as well as mild renal dysfunction, whereas her sister had pronounced renal dysfunction accompanied by mild defects in insulin and glucagon secretion. Both twins manifested hypomagnesemia and hyperuricemia, but no apparent liver dysfunction or intellectual disability. The severity of renal and pancreatic defects differed between monozygotic twins with maturity‐onset diabetes of the young type 5, suggesting that the phenotypes of this condition are determined not solely by genetic factors.
- Subjects :
- 0301 basic medicine
Proband
Endocrinology, Diabetes and Metabolism
030232 urology & nephrology
Case Report
030105 genetics & heredity
0302 clinical medicine
Central Nervous System Diseases
Insulin Secretion
Kidney
Hepatocyte nuclear factor 1β gene
Incidence
Glucagon secretion
General Medicine
Aplasia
Articles
Maturity-onset diabetes of the young type 5
Kidney Diseases, Cystic
Hypoplasia
medicine.anatomical_structure
Clinical Science and Care
Phenotype
Maturity‐onset diabetes of the young type 5
Female
Kidney Diseases
Monozygotic twins
Adult
medicine.medical_specialty
congenital, hereditary, and neonatal diseases and abnormalities
Maturity onset diabetes of the young
Diseases of the endocrine glands. Clinical endocrinology
03 medical and health sciences
Internal medicine
Diabetes mellitus
Internal Medicine
medicine
Humans
Dental Enamel
Hydronephrosis
Hepatocyte Nuclear Factor 1-beta
business.industry
Pancreatic Diseases
Twins, Monozygotic
medicine.disease
RC648-665
Endocrinology
Diabetes Mellitus, Type 2
business
Biomarkers
Gene Deletion
Subjects
Details
- Language :
- English
- ISSN :
- 20401116 and 20401124
- Volume :
- 10
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Journal of Diabetes Investigation
- Accession number :
- edsair.doi.dedup.....d32b8821f1ea458bb6c760e1552793ff