Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright / Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome
Rev. med. Chile
;
150(10): 1275-1282, oct. 2022. ilus, tab
Artículo
en Español
| LILACS
| ID: biblio-1431854
ABSTRACT
BACKGROUND: Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies. AIM: To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution. MATERIAL AND METHODS: Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS. RESULTS: The patients' mean age at diagnosis was 4.9 ± 5.5 years. The most common initial clinical manifestation was peripheral precocious puberty (PPP) in 67% of patients and 75% had café-au-lait spots. Fibrous dysplasia was present in 75% of patients and the mean age at diagnosis was 7.9 ± 4.7 years. Ten patients had a bone scintigraphy, with an age at the first examination that varied between 2 and 38 years of age. The most frequent location of dysplasia was craniofacial and appendicular. No patient had a recorded history of cholestasis, hepatitis, or pancreatitis. In four patients, a genetic study was performed that was positive for the pathogenic variant of guanine nucleotide binding protein, alpha stimulating (GNAS). CONCLUSIONS: These patients demonstrate the variable nature of the clinical presentation and study of FD/MAS. It is essential to increase the index of diagnostic suspicion and adherence to international recommendations.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Pubertad Precoz
/
Displasia Fibrosa Ósea
/
Displasia Fibrosa Poliostótica
Tipo de estudio:
Guía de Práctica Clínica
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
País/Región como asunto:
America del Sur
/
Chile
Idioma:
Español
Revista:
Rev. med. Chile
Asunto de la revista:
Medicina
Año:
2022
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Hospital Herminda Martín de Chillán/CL
/
Pontificia Universidad Católica de Chile/CL
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