遺傳性球狀紅血球增多症－病例報告

Hereditary Spherocytosis-One Case Report

孫得功(Ter-Kung Sun) ； 康健軍(Jiann-Jiwn Kang) ； 苑秉純(Ping-Shung Yung) ； 李安仁(An-Jen Li)

《Journal of Medical Sciences》 9卷6期 (1989/12) Pp. 429-434

摘要

這是一名五歲女童，因咳嗽、發燒三天在外求診。住院當日上午，病童膚色猝變深黃，在外檢驗血紅素8.5gm/dl，而送來本院求診。臨床上，病童除有呼吸道感染症狀外，尚明顯有貧血、黃疸和脾臟腫大現象。經周邊血液抹片、紅血球脆性試驗等檢查，並追述其個人及家族病史，診斷該病童為一遺傳性球狀紅血球增多症。此病為北歐白種人常見先天性溶血病，非白人則較罕見，目前台灣報告該病例者尤少，故特參考文獻提出報告。

關鍵字

紅血球增多症

並列摘要

A five-year-old girl was admitted to our hospital due to cough and fever for three days and sudden onset of generalized yellowish discoloration of skin on the admission day. The data of blood hemoglobin of the patient was 8.5gm/dl, checked by the local clinical department. As far as clinic characteristics are concerned, the patient has had anemia, jaundice, and splenomegaly, in addition to the symptoms of infection of respiratory tract. By checking peripheral blood smear, doing fragility test, and tracing the history of the patient herself and her families, hereditary spherocytosis of the patient was proved in our hospital. The disease is the most common inherited anemia affecting persons of northern European ancestry. That its primary defect is hought to reside in the membrane skeleton leads to a reduction in the surface area of the membrane relative to its volume, which is responsible for the clinical problems and abnormal shape and fragility of the erythrocytes. Its incidence is about 1/5000. Gall stone is the major complication. Therapy depends on plenectomy.

並列關鍵字

Hereditary spherocytosis ； sheleton ； protein-4.1 ； actin ； ankyrin ； fragitity ； deformatility