Đang chuẩn bị liên kết để tải về tài liệu:
Hội chứng Alport ở trẻ em - bệnh viêm thận di truyền có thể bỏ sót chẩn đoán: Kinh nghiệm tại Bệnh viện Nhi đồng 1

Bài viết Hội chứng Alport ở trẻ em - bệnh viêm thận di truyền có thể bỏ sót chẩn đoán: Kinh nghiệm tại Bệnh viện Nhi đồng 1 trình bày khảo sát các đặc trưng kiểu hình, kiểu gen và đáp ứng điều trị của hội chứng Alport (HC Alport) ở trẻ em. | Journal of Pediatric Research and Practice Vol. 6 No. 2 2022 44-55 Research Paper Alport Syndrome in Children - Hereditary Nephritis That Can Be Underdiagnosed Experiences of Children Hospital I Nguyen Duc Quang Hoang Vinh An Tran Minh Dung Than Thi Thuy Hien Children Hospital No.1 341 Su Van Hanh Ward 10 District 10 Ho Chi Minh City Vietnam Received 1 March 2022 Revised 15 March 2022 Accepted 25 March 2022 Abstract Objectives Survey characteristics of phenotypes genotypes and therapeutic responses of children with Alport syndrome. Methods This retrospective case series study included children diagnosed Alport syndrome based on discovery of genetic mutations in one of the COL4A3 COL4A4 and COL4A5 genes who were treated at Department of Nephrology and Endocrinology Children Hospital 1 from January 2013 to March 2020. Results Alport syndrome was diagnosed in ten children 9 cases with X-linked and 1 case with autosomal recessive inheritance. Median age at symptomatic onset was 12 from 3 to 15 years old male to female ratio was 9 1. The presenting features encompassed microscopic hematuria 100 microscopic and macroscopic hematuria 30 microscopic hematuria and nephrotic-range proteinuria 50 nephrotic syndrome 50 hypertension 30 . Median glomerular filtration rate at disease onset was 114.2 from 72.9 to170.3 ml min 1.73m2 . Sensorineural deafness was observed in 3 children at disease onset in 1 case 13 years old later appearance in two other cases 11 and 14 years old . Diagnoses of renal biopsies revealed focal segmental glomerulosclerosis in 6 cases minimal change disease in 2 cases type I membranoproliferative glomerulonephritis in 1 case and IgA nephropathy in 1 case. Of 6 patients treated with immunosuppressants 5 cases with early steroid-resistant nephrotic syndrome as presenting features achieved only partial remission and remained significant proteinuria at last observations. On the latest follow-up with median time of 23 months from 1 to 80 months stage 3B 3A .