Đặc điểm lâm sàng và cận lâm sàng của hội chứng prader-willi

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Tác giả: Thùy Lan An, Phương Thảo Bùi, Thị Bích Ngọc Cấn, Thị Hồng Nhung Đinh, Diễm Ngọc Ngô, Ngọc Khánh Nguyễn, Phú Đạt Nguyễn, Thị Hoàn Nguyễn, Thị Mai Nguyễn, Chí Dũng Vũ

Ngôn ngữ: vie

Ký hiệu phân loại: 616.8582 Diseases of nervous system and mental disorders

Thông tin xuất bản: Y học Việt Nam, 2012

Mô tả vật lý: 289-295

Bộ sưu tập: Metadata

ID: 630960

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder due the lack of expression of paternally inherited imprinted genes on chromosome 15ql1-13. Clinical presentation includes hypotonia, hyperphagia, obesity, hypogonadism, learning difficulty. Objective: To study clinical and laboratory of patient diagnosed and treated in National Hospital of Pediatrics, Hanoi (NHP). Subjects: 28 patients diagnosed of PWS by FISH in NHP from December 2007 to April 2012 were recruited in the study. Methods: Descriptive study. Results: Male/female ratio was 6/1. Patients diagnosed before 5 years occupied 53.5 percent. 85.7 percent of patients were found to have hypotonia at age of 4.9 + or - 2.0 months. 86.4 percent of patients had hyperphagia at age of 20.7 + or - 11.1 months. In patients aged of 2 years, weight SDS was +8.7 + or - 4.7 SD compared to gender and age. The figure of BMI was +10.3 + or - 6.3 SD. 4/7 of patients aged or = 6 years had micropenis. 100 percent of patients had mental retardation. 91.7 percent of patients had cryptorchidism. 4/24 of patients (14.3 percent) had type 2 diabetes mellitus. Conclusion: Based on clinical presentation, more PWS patients could be diagnosed and treated early.
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