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PDX1 ‐MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.
- Source :
-
Clinical Genetics . Feb2018, Vol. 93 Issue 2, p382-386. 5p. 1 Color Photograph, 1 Chart. - Publication Year :
- 2018
-
Abstract
- 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. The proband presented with diabetes since 14 years of age and maintained regular glycemic control with low doses of basal insulin and detectable C‐peptide levels after 38 years with diabetes. A diagnosis of MODY was suspected. Targeted next‐generation sequencing identified a heterozygous variant in PDX1 : c.188delC/p.Pro63Argfs*60. Computed tomography revealed caudal pancreatic agenesis. Low fecal elastase indicated exocrine insufficiency. His son had impaired glucose tolerance, presented similar pancreatic agenesis, and harbored the same allelic variant. 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. This finding can improve the management of MODY4 patients, leading to precocious investigation of pancreatic dysgenesis and exocrine dysfunction. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 93
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 127563510
- Full Text :
- https://doi.org/10.1111/cge.13044