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CC BY 4.0 · Arq Neuropsiquiatr 2023; 81(S 01): S1-S96
DOI: 10.1055/s-0043-1774431
SCIENTIFIC WORK
Doenças neuromusculares
Code: PE033

Hypoglycemia in patients with LAMA2-CMD

Authors

  • Clara Gontijo Camelo

    1   Universidade de São Paulo, São Paulo SP, Brazil

  • Cristiane Araújo Martins Moreno

    1   Universidade de São Paulo, São Paulo SP, Brazil

  • Mariana Cunha Artilheiro

    1   Universidade de São Paulo, São Paulo SP, Brazil

  • André Macedo Serafim Silva

    1   Universidade de São Paulo, São Paulo SP, Brazil

  • Alullin Tácio Quadros Monteiro Fonseca

    1   Universidade de São Paulo, São Paulo SP, Brazil

  • Rodrigo Mendonça de Holanda

    1   Universidade de São Paulo, São Paulo SP, Brazil

  • Umbertina Conti Reed

    1   Universidade de São Paulo, São Paulo SP, Brazil

  • Edmar Zanoteli

    1   Universidade de São Paulo, São Paulo SP, Brazil
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    Background: Hypoglycemia has been reported in LAMA2-CMD patients, but the frequency, risk factors, and correlation to genotype/phenotype have not been systematically assessed to date.

    Objective: The aim of this study was to identify the frequency of hypoglycemia in a large cohort of LAMA2-CMD patients and to correlate it with findings of phenotypes and genotypes that enhance possible risk factors and triggers.

    Methods: A retrospective cohort study was performed on 48 patients with LAMA2-CMD. Patients were divided into 2 groups: a hypoglycemic group, with at least 1 episode of hypoglycemia, and a nonhypoglycemic group. The groups were compared according to gait function, epilepsy, intellectual disability, constipation, gastroesophageal reflux, gastrostomy, weight percentile, scoliosis, the use of a ventilator device, the use of a feeding device, neuromuscular disease swallowing status scale, and type of mutation.

    Results: Fifteen patients (31.2%) presented with at least 1 episode of symptomatic hypoglycemia and 8 (16.6% of the cohort) had 2 or more episodes. All patients who had hypoglycemia were in the nonambulant group. A correlation was observed between gait, the use of ventilator and feeding devices, and swallow function with hypoglycemia. Patients with extreme low weight were 5 times more likely to have recurrent episodes of hypoglycemia. The presence of at least 1 missense variant appears to be associated with a lower risk of hypoglycemia.

    Conclusions: Patients with LAMA2-CMD are at risk of hypoglycemia. The risk is more relevant in patients with severe phenotype and patients with loss of function variants. For patients with extremely low weight, the risk is higher. Blood glucose should be actively measured in patients who are fasting or have infections, and health care providers should be prepared to identify and treat these patients.


     

    Die Autoren geben an, dass kein Interessenkonflikt besteht.

    Publikationsverlauf

    Artikel online veröffentlicht:
    18. September 2023

    © 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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