Jiménez Catalina, Schneider Paulina, Baudrand Rene, García Hernán, Martínez Alejandro, Mendoza Carolina, Grob Francisca, Seiltgens Cristián, Florenzano Pablo
Departamento de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Unidad de Endocrinología Infantil, Hospital Herminda Martín de Chillán, Chillán, Chile.
Rev Med Chil. 2022 Oct;150(10):1275-1282. doi: 10.4067/S0034-98872022001001275.
Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies.
To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution.
Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS.
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).
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.
纤维性发育不良/ McCune - Albright综合征（FD/MAS）的特征是一系列表现，可能包括骨纤维性发育不良和多种内分泌病。
描述在我们机构接受治疗的FD/MAS患者的临床谱、研究及随访情况。
回顾12例符合FD/MAS临床和基因诊断标准的儿科及成年患者（11名女性）的病历。
患者诊断时的平均年龄为4.9±5.5岁。最常见的初始临床表现是外周性性早熟（PPP），67%的患者有此症状，75%的患者有咖啡牛奶斑。75%的患者存在骨纤维性发育不良，诊断时的平均年龄为7.9±4.7岁。10例患者进行了骨闪烁显像，首次检查的年龄在2至38岁之间。发育不良最常见的部位是颅面部和四肢。没有患者有胆汁淤积、肝炎或胰腺炎的记录病史。4例患者进行了基因研究，结果显示鸟嘌呤核苷酸结合蛋白α刺激型（GNAS）的致病变异呈阳性。
这些患者展示了FD/MAS临床表现和研究的多样性。提高诊断怀疑指数并遵循国际建议至关重要。
