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Thiamine-Responsive Megaloblastic Anemia-Related Diabetes: Long-Term Clinical Outcomes in 23 Pediatric Patients From

Katharina Warncke1, Nicole Prinz2, Violeta Iotova3

  • 1Department of Pediatrics, Kinderklinik München Schwabing, Technical University of Munich School of Medicine, Munich, Germany.

Canadian Journal of Diabetes
|January 3, 2021
PubMed

Insights

Children with thiamine-responsive megaloblastic anemia (TRMA)-related diabetes often start treatment years after diagnosis. Early thiamine supplementation did not improve diabetes outcomes in this pediatric cohort.

Area of Science:

  • Pediatric Endocrinology
  • Metabolic Disorders
  • Genetics

Background:

  • Thiamine-responsive megaloblastic anemia (TRMA)-related diabetes is a rare condition requiring specific management.
  • Understanding the clinical course and long-term outcomes is crucial for optimizing patient care.
  • This study focuses on a large cohort of children diagnosed with TRMA-related diabetes.

Purpose of the Study:

  • To describe the clinical presentation of pediatric TRMA-related diabetes.
  • To evaluate the long-term outcomes in children with TRMA-related diabetes.
  • To assess the impact of thiamine supplementation timing on diabetes control.

Main Methods:

  • Utilized data from the DPV and SWEET registries, encompassing 23 pediatric cases.
  • Conducted a complementary chart review for detailed case information.
  • Employed descriptive analyses, including medians, interquartile ranges, and proportions.

Main Results:

  • Identified 23 cases (52% male), with 78% having genetic confirmation of TRMA.
  • Median age at diabetes onset was 1.4 years, and thiamine treatment initiation was at 5.9 years.
  • Good glycemic control (HbA1c 6.9%) was maintained long-term; early thiamine initiation showed no outcome difference.

Conclusions:

  • This is the longest reported case series of pediatric TRMA-related diabetes.
  • Diabetes onset frequently precedes thiamine supplementation, with no clear benefit from early initiation on outcomes.
  • Further research is needed on thiamine's role in pancreatic function, though patients achieve sustained glycemic control.
Abstract

Keywords:
anémie mégaloblastiquechildrendeafnessdiabetesdiabèteenfantsmegaloblastic anemiasurditésyndromethiamine

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