Transient neonatal diabetes
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Transient neonatal diabetes | |
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Transient neonatal diabetes mellitus is inherited in an autosomal dominant manner[1] | |
Transient neonatal diabetes mellitus (TNDM) is a form of neonatal diabetes presenting at birth that is not permanent. This disease is considered to be a type of maturity onset diabetes of the young (MODY).
Types
Type | OMIM | Gene | Locus | Description |
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TNDM1 | 601410 | ZFP57, PLAGL1 | 6p22.1, 6q24.2 | |
TNDM2 | 610374 | ABCC8 | 11p15.1 | Due to the mutations of the other subunit of the KATP channel, SUR1, which is encoded by the ABCC8 gene.[2] |
TNDM3 | 610582 | KCNJ11 | 11p15.1 |
Signs and symptoms
The clinical presentation of this condition is as follows:[3]
- Macroglossia
- Umbilical hernia
- Hearing impairment
- Hypothyroidism
- Underactive thyroid
- Hypotonia
Cause
This condition has to do with genetics and is often associated with having an added Chromosome 7 gene (mostly from the paternal side).[citation needed]
The form on chromosome 6 can involve imprinting.[4][5]
Diagnosis
The diagnosis of this condition is based on clinical signs, additionally:[6]
- Hyperglycemia (confirmed by lab finding)
- Genetic test
Management
The treatment for this condition,Transient neonatal diabetes mellitus is done via the following :[6]
- Rehydration
- Intravenous insulin
- Diet alone
- Oral sulfonylurea
See also
References
- ↑ "OMIM Entry - # 610582 - DIABETES MELLITUS, TRANSIENT NEONATAL, 3". omim.org. Archived from the original on 20 July 2020. Retrieved 12 September 2017.
- ↑ de Wet H, Proks P, Lafond M, et al. (May 2008). "A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes". EMBO Rep. 9 (7): 648–54. doi:10.1038/embor.2008.71. PMC 2475326. PMID 18497752.
- ↑ "Transient neonatal diabetes mellitus | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 11 April 2021. Retrieved 19 January 2022.
- ↑ Raphaël Scharfmann (2007). Development of the Pancreas and Neonatal Diabetes. Karger Publishers. pp. 113–. ISBN 978-3-8055-8385-5. Archived from the original on 28 May 2013. Retrieved 10 November 2010.
- ↑ "Other Forms (MODY, LADA, Neonatal)". www.DiabetesCare.net. DiabetesCare.net. Archived from the original on 29 November 2014. Retrieved 20 November 2014.
- ↑ 6.0 6.1 RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Transient neonatal diabetes mellitus". www.orpha.net. Archived from the original on 20 January 2021. Retrieved 19 January 2022.
Further reading
- GeneReview/NIH/UW entry on 6q24-Related Transient Neonatal Diabetes Mellitus Archived 2020-10-21 at the Wayback Machine
External links
Classification | |
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External resources |