Nguyên nhân di truyền gây sỏi thận và bệnh thận mãn tính

Springer Science and Business Media LLC - Tập 28 - Trang 1923-1942 - 2013
Vidar O. Edvardsson1,2,3, David S. Goldfarb1,4, John C. Lieske1,5,6, Lada Beara-Lasic1,4, Franca Anglani1,7, Dawn S. Milliner1,8, Runolfur Palsson1,3,9
1The Rare Kidney Stone Consortium, Mayo Clinic, Rochester, USA
2Children's Medical Center, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland
3Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
4Nephrology Section, NY Harbor VA Medical Center, and Division of Nephrology, NYU School of Medicine, New York, USA
5Mayo Clinic, Division of Nephrology and Hypertension, Department of Internal Medicine and Renal Function Laboratory, Rochester, USA
6Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, USA
7Division of Nephrology, Department of Medicine, University of Padua, Padova, Italy
8Mayo Clinic Division of Nephrology, Departments of Pediatrics and Internal Medicine, Mayo Clinic Hyperoxaluria Center, Rochester, USA
9Division of Nephrology, Internal Medicine Services, Landspitali – The National University Hospital of Iceland, Reykjavik, Iceland

Tóm tắt

Thiếu hụt adenine phosphoribosyltransferase (APRT), cystinuria, bệnh Dent, hạ magnesemia gia đình kèm theo tăng canxi niệu và nephrocalcinosis (FHHNC), cùng với hyperoxaluria tiên phát (PH) là những nguyên nhân hiếm gặp nhưng quan trọng gây ra bệnh sỏi thận nặng và/hoặc bệnh thận mãn tính ở trẻ em. Bệnh sỏi thận tái phát và nephrocalcinosis, đặc biệt ở trẻ em trước dậy thì, nên cảnh báo cho bác sĩ về khả năng có lỗi bẩm sinh trong chuyển hóa như là nguyên nhân cơ bản. Rất tiếc, sự thiếu nhận thức và kiến thức về năm rối loạn này thường dẫn đến sự chậm trễ không thể chấp nhận trong chẩn đoán và điều trị, đôi khi với những hệ quả nghiêm trọng. Một chỉ số nghi ngờ cao kết hợp với chẩn đoán sớm có thể giảm thiểu hoặc thậm chí ngăn ngừa các biến chứng lâu dài nghiêm trọng của những căn bệnh này. Trong bài viết này, chúng tôi xem xét dịch tễ học, đặc điểm lâm sàng, chẩn đoán, điều trị và kết quả của các bệnh nhân bị thiếu hụt APRT, cystinuria, bệnh Dent, FHHNC và PH, với sự nhấn mạnh vào các biểu hiện ở trẻ em.

Từ khóa

#sỏi thận #bệnh thận mãn tính #di truyền #trẻ em #rối loạn chuyển hóa

Tài liệu tham khảo

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