2,8-二氧化氨酸 (DHA) 结晶性病:一个病例报告
Jawad Iqbal Rather1, Mukaresh Fatima1, Muzafar Maqsood Wani1
1Department of Nephrology, Sher-I-Kashmir Institute of Medical Sciences, Srinagar. India.
氨酸基转移酶 (APRT) 缺乏,是一种罕见的遗传疾病,可以导致严重的脏问题,如晶体脏病. 早期诊断和使用香氧化酶抑制剂的治疗可以改善功能.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 氨酸基转移酶 (APRT) 缺乏症是一种罕见的自体相衰退性疾病.
- 它导致2,8-二基氨酸 (DHA) 的积累,导致结石和结晶性脏病.
- 临床表现非常可变,从无症状到严重的损伤.
更多相关视频
07:38Induction of Nephrotic Syndrome in Mice by Retrobulbar Injection of Doxorubicin and Prevention of Volume Retention by Sustained Release Aprotinin
Published on: May 6, 2018
07:45Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
Published on: February 9, 2021
相关概念视频
Nephrotic Syndrome I : Introduction
Nephrotic Syndrome II : Assessment and Medical Management
Chronic Kidney Disease I: Introduction
Chronic Kidney Disease II: Clinical Manifestations
Chronic Kidney Disease III: Interprofessional Care
Diabetic Nephropathy
