Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey

Nutrients

Laritza Martínez Rey¹  Ana Chiesa²  Georgina María Zayas Torriente³  Ramsés Badilla Porras⁴  Ana Rosa Colmenares⁵  Manuel Saborío-Rocafort⁶  Marco Morales⁷  Bruna Bento dos Santos⁸  Soraia Poloni⁸  Ida Vanessa Doederlein Schwartz⁸  Lilia Farret Refosco⁸  José Fernando Sotillo-Lindo⁹  Amanda Rocío Caro Naranjo^1,10  Antonieta Mahfoud^1,11  María Florencia Salazar^1,12  María Jesús Leal-Witt^1,12  Veronica Cornejo^1,12  Gabriela Castro^1,12  Felipe Peñaloza^1,12  Aida Lemes^1,13  Marcela Vela Amieva^1,14  Lourdes Ortiz Paranza^1,15  Marta Cristina Sanabria^1,16  Sunling Palma Wong^1,17  Ceila Perez^1,18  Marcela Pereyra^1,19  Norma Specola^2,20 

[1] Centro Nacional de Genética Médica, La Habana 11300, Cuba;Centro de Investigaciones Endocrinologicas DR Cesar Bergadá, CEDIE-CONICET-Fundación de Endocrinologia Infantil-Division de Endocrinologia Hospital de Niños R Gutierrez, Gallo 1330, Buenos Aires C1425EFD, Argentina;Centro de Nutrición e Higiene de los Alimentos del Instituto Nacional de Higiene, Epidemiología y Microbiología (INHEM), La Habana 10300, Cuba;FCCMG Servicio de Genética Médica y Metabolismo, Hospital Nacional de Niños, San José 267-1005, Costa Rica;Hospital Clinica Caracas-Materno Infantil de Caricuao, Caracas 1000, Venezuela;Hospital Nacional de Niños, Caja Costarricense de Seguro Social & Sistema de Estudios de Posgrado, Universidad de Costa Rica, San José 11501, Costa Rica;Hospital Rebagliati, Lima 15072, Peru;Hospital de Clínicas de Porto Alegre, Porto Alegre 90035-903, Brazil;Hospital de especialidades Pediátricas “Omar Torrijos Herrera”, Ciudad de Panamá 07136, Panama;Instituto de Errores Innatos del Metabolismo de la Pontificia Universidad Javeriana, Bogota 110231, Colombia;Instituto de Estudios Avanzados, Caracas 17606, Venezuela;Instituto de Nutrición y Tecnología de los Alimentos (INTA) Universidad de Chile, Santiago de Chile 1058, Chile;Instituto de la Seguridad Social, Montevideo 11000, Uruguay;Laboratorio de Errores Innatos del Metabolismo y Tamiz-Instituto Nacional de Pediatría, Ciudad de México 04530, Mexico;Ministerio de Salud Pùblica y Bienestar Social, Asunciòn 1735, Paraguay;Pediatric Department and Department of the Hospital de Clínicas, Universidad Nacional de Asunciòn, Asunción 1102, Paraguay;Programa Nacional de Tamizaje, Hospital Nacional de Niños, San José 267-1005, Costa Rica;Robert Reid Cabral Children’s Hospital, Santo Domingo 10101, Dominican Republic;Servicio de Crecimiento y Desarrollo del Hospital Pediátrico Dr. H. Notti, 2603, Mendoza M5519, Argentina;Unidad de Metabolismo, Hospital de Niños de La Plata, La Plata B1904, Argentina;

关键词: phenylketonuria;    PKU;    low-protein diet;    newborn screening;   

DOI  :  10.3390/nu13082566

来源: DOAJ

【 摘 要 】

This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed at health professionals. After a pilot test, the final version was sent to 25 practitioners working with inborn errors of metabolism (IEM) in 14 countries. Our results include 22 centers in 13 countries. Most countries (12/13) screened newborns for PKU. Phenylalanine (Phe) targets at different ages were very heterogeneous among centers, with greater consistency at the 0–1 year age group (14/22 sought 120–240 µmol/L) and the lowest at >12 years (10 targets reported). Most countries had only unflavored powdered amino acid substitutes (10/13) and did not have low-protein foods (8/13). Only 3/13 countries had regional databases of the Phe content of foods, and only 4/22 centers had nutrient analysis software. The perceived obstacles to treatment were: low purchasing power (62%), limited/insufficient availability of low-protein foods (60%), poor adherence, and lack of technical resources to manage the diet (50% each). We observed a heterogeneous scenario in the dietary management of PKU, and most countries experienced a lack of dietary resources for both patients and health professionals.

【 授权许可】

Unknown