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
Article
em Es
| LILACS
| ID: biblio-1431854
Biblioteca responsável:
CL126.2
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 ANDMETHODS:
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Puberdade Precoce
/
Displasia Fibrosa Óssea
/
Displasia Fibrosa Poliostótica
Tipo de estudo:
Guideline
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
País/Região como assunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev. med. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Chile
País de publicação:
Chile