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Electrochemiluminescence Assays for Human Islet Autoantibodies
Published on: March 23, 2018
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[Early onset diabetes mellitus]
K Busiah1, L Vaivre-Douret2, C Yachi3
1Endocrinologie, gynécologie et diabétologie pédiatrique, hôpital Necker-Enfants malades (AP-HP), affiliation IMAGINE, 149 rue de Sèvres, 75015 Paris, France; Université Paris-Descartes, Sorbonne-Paris-Cité, 12 rue de l'École-de-Médecine, 75270 Paris Cedex 06, France; Inserm U845, faculté de médecine Cochin, 24 rue du faubourg Saint-Jacques, 75014 Paris, France.
Summary
Neonatal diabetes mellitus, a rare hyperglycemia in infants, has genetic causes like 6q24 abnormalities or KATP channel gene mutations. While some cases remit, recurrence is common, and KATP-related forms may involve developmental issues.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Context:
- Neonatal diabetes mellitus (NDM) is a rare condition characterized by hyperglycemia in the first year of life.
- It can be transient, resolving early, or permanent, requiring lifelong management.
- Pathophysiology involves beta-cell dysfunction or absence, with genetic factors playing a key role.
Purpose:
- To elucidate the genetic underpinnings and clinical features of neonatal diabetes mellitus.
- To differentiate between subtypes based on genetic causes (6q24 abnormalities vs. KATP channel gene mutations).
- To analyze remission rates, recurrence patterns, and associated neurodevelopmental outcomes.
Summary:
- NDM arises from 6q24 abnormalities or mutations in ABCC8/KCNJ11 (KATP channel) genes.
- The 6q24 subtype presents with distinct features like congenital anomalies and intrauterine growth restriction.
- Remission occurs in 51% of cases, with common pubertal recurrence (82-86%).
- KATP-related NDM is associated with developmental delays, epilepsy, and neurodevelopmental disorders.
Impact:
- Provides insights into the distinct clinical presentations and genetic etiologies of NDM subtypes.
- Highlights the high recurrence rate of NDM, particularly at puberty.
- Underscores the importance of genetic testing for accurate diagnosis and management, including monitoring for neurodevelopmental sequelae.
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