MedElevator Войти в исследования
← Поиск публикаций

DOI 10.1186/s13023-025-03785-2

Медицинская библиотека · Orphanet journal of rare diseases · 2025

Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.

de Leon Cristiano do Amaral, Amantea Sérgio Luis, Pereira Renan Augusto, Dantas Ellen O, Loekmanwidjaja Jéssica, Costa-Carvalho Beatriz T, Mazzucchelli Juliana T L, Aranda Carolina S, González-Serrano Maria E, De La Cruz Córdoba Elizabeth Alejandra, Bezrodnik Liliana, Moreira Ileana, Ferreira Janaira F S, Dantas Vera M, Sales Valéria S F, Navarrete Carmen L, Vilela Maria M S, Motta Isabella P, Franco Jose Luis, Arango Julio Cesar Orrego, Álvarez-Álvarez Jesús A, Cardozo Lina Rocío Riaño, Orellana Julio C, Condino-Neto Antonio, Kokron Cristina M, Barros Myrthes T, Regairaz Lorena, Cabanillas Diana, Suarez Carmen L N, Rosario Nelson A, Chong-Neto Herberto J, Takano Olga A, Nadaf Maria I S V, Moraes Lillian S L, Tavares Fabiola S, Rabelo Flaviane, Pino Jessica, Calderon Wilmer C, Mendoza-Quispe Daniel, Goudouris Ekaterine S, Patiño Virginia, Montenegro Cecilia, Souza Monica S, Castelo Branco Aniela B X C, Forte Wilma C N, Carvalho Flavia A A, Segundo Gesmar, Cheik Marina F A, Roxo-Junior Pérsio, Peres Maryanna, Oliveira Annie M, Neto Arnaldo C P, Ortega-López Maria Claudia, Lozano Alejandro, Lozano Natalia Andrea, Nieto Leticia H, Grumach Anete S, Costa Daniele C, Antunes Nelma M N, Nudelman Victor, Pereira Camila T M, Martinez Maria D M, Quiroz Francisco J R, Cardona Aristoteles A, Nuñez-Nuñez Maria E, Rodriguez Jairo A, Cuellar Célia M, Vijoditz Gustavo, Bichuetti-Silva Daniélli C, Prando Carolina C M

СтатьяПеревод в очереди

Аннотация

BACKGROUND

Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by progressive degeneration, immunodeficiency, cancer predisposition, malnutrition, metabolic disorders, and chronic liver disease. The study aims to describe the nutritional status and plasma levels of biomarkers of lipid status, metabolic profile, and liver function of patients with A-T.

RESULTS

A total of 218 patients from 9 Latin American countries were included in the study. The distribution of patients according to nutritional status by age group revealed an over-time increase in the proportion of patients with severe thinness (p = 0.016). High glucose and triglyceride levels were observed in 9.5% and 23.6% of patients, respectively. Total cholesterol was high in 31.7, and 34.0% had abnormal LDL-c levels. In the analysis of paired samples, a progressive increase in aspartate aminotransferase was observed over time.

CONCLUSIONS

The present results are comparable to those of previous studies also showing changes in nutritional status and in lipid, metabolic, and liver profiles over time. These findings confirm a high rate of thinness in patients with A-T and progressive deterioration as the disease progresses, as well as changes in plasma levels of biomarkers of lipid status, metabolic profile, and liver function.

Для цитирования: de Leon Cristiano do Amaral, Amantea Sérgio Luis, Pereira Renan Augusto, Dantas Ellen O, Loekmanwidjaja Jéssica, Costa-Carvalho Beatriz T, Mazzucchelli Juliana T L, Aranda Carolina S, González-Serrano Maria E, De La Cruz Córdoba Elizabeth Alejandra, Bezrodnik Liliana, Moreira Ileana, Ferreira Janaira F S, Dantas Vera M, Sales Valéria S F, Navarrete Carmen L, Vilela Maria M S, Motta Isabella P, Franco Jose Luis, Arango Julio Cesar Orrego, Álvarez-Álvarez Jesús A, Cardozo Lina Rocío Riaño, Orellana Julio C, Condino-Neto Antonio, Kokron Cristina M, Barros Myrthes T, Regairaz Lorena, Cabanillas Diana, Suarez Carmen L N, Rosario Nelson A, Chong-Neto Herberto J, Takano Olga A, Nadaf Maria I S V, Moraes Lillian S L, Tavares Fabiola S, Rabelo Flaviane, Pino Jessica, Calderon Wilmer C, Mendoza-Quispe Daniel, Goudouris Ekaterine S, Patiño Virginia, Montenegro Cecilia, Souza Monica S, Castelo Branco Aniela B X C, Forte Wilma C N, Carvalho Flavia A A, Segundo Gesmar, Cheik Marina F A, Roxo-Junior Pérsio, Peres Maryanna, Oliveira Annie M, Neto Arnaldo C P, Ortega-López Maria Claudia, Lozano Alejandro, Lozano Natalia Andrea, Nieto Leticia H, Grumach Anete S, Costa Daniele C, Antunes Nelma M N, Nudelman Victor, Pereira Camila T M, Martinez Maria D M, Quiroz Francisco J R, Cardona Aristoteles A, Nuñez-Nuñez Maria E, Rodriguez Jairo A, Cuellar Célia M, Vijoditz Gustavo, Bichuetti-Silva Daniélli C, Prando Carolina C M. Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.. Orphanet journal of rare diseases. 2025. DOI: 10.1186/s13023-025-03785-2.

Предметные рубрики MeSH

HumansAtaxia TelangiectasiaNutritional StatusMaleFemaleAdultMiddle AgedYoung AdultAdolescentAgedBiomarkersChild
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Тип публикации указан по данным источника. Уровень доказательности автоматически не присваивается.