[The rare syndromic forms of monogenic diabetes in childhood]

Area of Science:

• Pediatrics
• Endocrinology
• Genetics

Background:

• Type 1 diabetes is common in children, but rare forms of monogenic diabetes also occur.
• Neonatal diabetes and other monogenic forms are linked to mutations in genes like KCNJ11, SUR1, and GCK.
• Syndromic diabetes in children involves mutations in genes causing Wolfram, Alström, Wolcott-Rallison, or Roger's/TRMA syndromes.

Purpose of the Study:

• To discuss the clinical features of rare syndromic forms of monogenic diabetes in childhood.
• To provide insights into the pathogenic mechanisms of childhood diabetes.
• To facilitate the appropriate classification of epidemiological, clinical, and genetic data for rare syndromic diabetes.

Main Methods:

• Review of clinical features of rare syndromic monogenic diabetes.
• Analysis of gene mutations associated with syndromic diabetes.
• Discussion of pathogenic mechanisms based on clinical and genetic data.

Main Results:

• Identified rare syndromic forms of monogenic diabetes in children.
• Highlighted the association of specific gene mutations with distinct chronic disorders.
• Provided a basis for understanding the pathogenesis of these rare diabetes forms.

Conclusions:

• Clinical and genetic characterization of rare syndromic monogenic diabetes is crucial for accurate diagnosis.
• Understanding these rare forms contributes to the broader knowledge of diabetes pathogenesis in children.
• This work may inform future national surveys on rare syndromic diabetes in Poland.