What is it about?
Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1-MODY is a rare form of monogenic diabetes caused by heterozygous variants in PDX1. Pancreatic developmental anomalies related to PDX1 are reported only in neonatal diabetes cases. Here, we describe dorsal pancreatic agenesis in 2 patients with PDX1-MODY.
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Why is it important?
The unusual presentation in this Brazilian family enabled expansion upon a rare disease phenotype, demonstrating the possibility of detecting pancreatic malformation even in cases of PDX1-related diabetes diagnosed after the first year of life.
Perspectives
This finding can improve the management of MODY4 patients, leading to precocious investigation of pancreatic dysgenesis and exocrine dysfunction.
Lucas Santana
Read the Original
This page is a summary of: PDX1
-MODY and dorsal pancreatic agenesis: New phenotype of a rare disease, Clinical Genetics, July 2017, Wiley,
DOI: 10.1111/cge.13044.
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