Maternally inherited diabetes and deafness
Última actualización 19 Jul 2023
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Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterised by high blood sugar (glucose) levels, known as hyperglycemia. This results from a shortage of the hormone insulin, which regulates the amount of glucose in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.
Descripción
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterised by high blood sugar (glucose) levels, known as hyperglycemia. This results from a shortage of the hormone insulin, which regulates the amount of glucose in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.
Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterised by colored patches in the light-sensitive tissue that lines the back of the eye (the retina). This disorder does not usually cause vision problems in people with MIDD. Individuals with MIDD also may experience muscle cramps or weakness, particularly during exercise; heart problems; kidney disease; and constipation. Individuals with MIDD are often shorter than their peers.
Patrones de herencia
The source lists the following possible inheritance patterns: mitochondrial. More than one pattern can apply in different cases.
Related genes
Otros nombres
Ballinger-Wallace syndrome
Diabetes mellitus, type II, with deafness
Maternally transmitted diabetes-deafness syndrome
MIDD
Mitochondrial inherited diabetes and deafness
NIDDM with deafness
Noninsulin-dependent diabetes mellitus with deafness
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Hipoparatiroidismo
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Lecturas adicionales y referencias
- Maternally inherited diabetes and deafness; MedlinePlus, National Library of Medicine.
- Kameoka K, Isotani H, Tanaka K, Kitaoka H, Ohsawa N. Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys). Diabetes Care. 1998 Nov;21(11):2034-5. doi: 10.2337/diacare.21.11.2034. No abstract available.
- Maassen JA, Jahangir Tafrechi RS, Janssen GM, Raap AK, Lemkes HH, 't Hart LM. New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome. Endocrinol Metab Clin North Am. 2006 Jun;35(2):385-96, x-xi. doi: 10.1016/j.ecl.2006.02.014.
- Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med. 2008 Apr;25(4):383-99. doi: 10.1111/j.1464-5491.2008.02359.x. Epub 2008 Feb 18.
- Supale S, Li N, Brun T, Maechler P. Mitochondrial dysfunction in pancreatic beta cells. Trends Endocrinol Metab. 2012 Sep;23(9):477-87. doi: 10.1016/j.tem.2012.06.002. Epub 2012 Jul 4.
- van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, van de Kamp JJ, Maassen JA. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992 Aug;1(5):368-71. doi: 10.1038/ng0892-368.
- Vialettes BH, Paquis-Flucklinger V, Pelissier JF, Bendahan D, Narbonne H, Silvestre-Aillaud P, Montfort MF, Righini-Chossegros M, Pouget J, Cozzone PJ, Desnuelle C. Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report. Diabetes Care. 1997 Nov;20(11):1731-7. doi: 10.2337/diacare.20.11.1731.
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