Pregnancy in MNGIE: a clinical and metabolic honeymoon.
Ann Clin Transl Neurol
; 7(12): 2484-2488, 2020 12.
Article
em En
| MEDLINE
| ID: mdl-33159497
ABSTRACT
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an inherited disease caused by a deficiency in thymidine phosphorylase and characterized by elevated systemic deoxyribonucleotides and gastrointestinal (GI) and neurological manifestations. We report the clinical and biochemical manifestations that were evaluated in a single patient before, during, and after pregnancy, over a period of 7 years. GI symptoms significantly improved, and plasma deoxyribonucleotide concentrations decreased during pregnancy. Within days after delivery, the patient's digestive symptoms recurred, coinciding with a rapid increase in plasma deoxyribonucleotide concentrations. We hypothesize that the clinico-metabolic improvements could be attributed to the enzyme replacement action of the placental thymidine phosphorylase.
Texto completo:
1
Coleções:
01-internacional
Contexto em Saúde:
3_ND
Base de dados:
MEDLINE
Assunto principal:
Complicações na Gravidez
/
Encefalomiopatias Mitocondriais
/
Progressão da Doença
/
Gastroenteropatias
Aspecto:
Patient_preference
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Ann Clin Transl Neurol
Ano de publicação:
2020
Tipo de documento:
Article