Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III
J. inborn errors metab. screen
;
8: e20200002, 2020. tab, graf
Artículo
en Inglés
|
LILACS-Express
| LILACS
| ID: biblio-1135004
ABSTRACT
Abstract Mucopolysaccharidosis III (MPS III) is a rare inherited metabolic disease primarily affecting the central nervous system, leading to developmental and/or speech regression. Early diagnosis of the disease is important to introduce appropriate management measures and to optimize therapeutic outcomes. The diagnosis of MPS III is often significantly delayed due to the rarity of the disease, the more attenuated somatic presentation compared to other MPS types, and the symptom overlap with other developmental disorders. To shorten the time to diagnosis, a list of eight early signs and symptoms was identified through an expert system approach by a global, multidisciplinary working group of 13 specialists with expertise in various aspects of MPS and developmental disorders and three parents of MPS III patients. Coarse facial features and persistent hirsutism or prominent, thick eyebrows were identified as the most important MPS III early signs. The list of eight early MPS III signs and symptoms is the first step towards the development of a clinical algorithm aiming to identify neonates and infants with MPS III before the onset of neurocognitive damage, ultimately shortening the diagnostic journey of MPS III patients.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
/
Estudio de tamizaje
Idioma:
Inglés
Revista:
J. inborn errors metab. screen
Asunto de la revista:
Medicina Cl¡nica
/
Patologia
Año:
2020
Tipo del documento:
Artículo
País de afiliación:
Brasil
/
Canadá
/
Colombia
/
Alemania
/
Estados Unidos
/
Reino Unido
Institución/País de afiliación:
Autonomous Collaborator/US
/
Centro Universitário Estácio de Ribeirão Preto/BR
/
Childrens Hospital of Pittsburgh/US
/
Cure Sanfilippo Foundation/US
/
Fundación Cardio-Infantil/CO
/
Great Ormond Street Hospital NHS Foundation Trust/GB
/
Greenwood Genetics Center/US
/
RTI International/US
/
Universidade Federal do Rio Grande do Sul/BR
/
University Medical Center Hamburg-Eppendorf/DE
Similares
MEDLINE
...
LILACS
LIS