Dados do Trabalho

Título

HYPOGLYCEMIA IN PATIENTS WITH LAMA2-CMD

Introdução

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.

Objetivo

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.

Métodos

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.

Resultados

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.

Conclusões

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.

Palavras chave

LAMA2-CMD, hypoglycemia, genotype-phenotype, metabolism, weight

Referências (se houver)

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Declaração de conflito de interesses de TODOS os autores

Não há conflito de interesse de NENHUM dos autores