Transient neonatal diabetes

From WikiProjectMed
Jump to navigation Jump to search
Transient neonatal diabetes
Autosomal dominant - en.svg
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
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

Neonatal hyperglycemia due to Transient Neonatal Diabetes Mellitus-neonate with macroglossia

The clinical presentation of this condition is as follows:[3]

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]

Management

The treatment for this condition,Transient neonatal diabetes mellitus is done via the following :[6]

See also

References

  1. "OMIM Entry - # 610582 - DIABETES MELLITUS, TRANSIENT NEONATAL, 3". omim.org. Archived from the original on 20 July 2020. Retrieved 12 September 2017.
  2. 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.
  3. "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.
  4. 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.
  5. "Other Forms (MODY, LADA, Neonatal)". www.DiabetesCare.net. DiabetesCare.net. Archived from the original on 29 November 2014. Retrieved 20 November 2014.
  6. 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

External links

Classification
External resources