古典银血病的不寻常呈现:伊朗经验的案例报告
Mohammadreza Alaee1, Hedyeh Saneifard1, Marjan Shakiba1
1Department of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital Shahid Beheshti University of Medical Sciences Tehran Iran.
Clinical case reports
|February 20, 2025
概括
经典的银河血症是一种罕见的代谢障碍,在诊断方面存在独特的挑战. 在伊朗,通过新生儿查进行早期检测对于及时干预和改善结果至关重要.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 银血症是一种罕见的,自体相逆性代谢障碍.
- 经典的银河血症,由银河糖-1-酸盐-尿基转移酶缺乏引起,是最常见的类型.
- 延迟诊断可能导致严重的健康并发症.
研究的目的:
- 报告一个典型的银河系血病病例与不寻常的表现.
- 突出诊断挑战和早期检测的重要性.
- 倡导将银血症纳入伊朗新生儿查计划.
主要方法:
- 一个婴儿的临床病例呈现,其营养不良,惰,以及无法壮成长.
- 实验室调查,包括检测高水平的银河糖-1酸盐.
- 整体外因子测序 (WES) 来识别遗传突变.
主要成果:
- 该患者出现了宏细胞性贫血,代谢性酸和神经发育迟缓,模仿其他代谢障碍.
- 高水平的银河糖-1酸盐导致开始无银河糖饮食,导致临床改善.
- 全外体序列测定证实了GALT基因 (c.794 C>G,p. Pro265Arg) 中可能存在的致病性同卵性突变.
结论:
- 经典的银河血症可能会出现异常症状,使早期诊断复杂化.
- 及时诊断和启动无银河糖饮食对于管理这种情况至关重要.
- 在伊朗实施普遍的新生儿银血病查是防止延迟诊断和改善患者结果的必要条件.
相关概念视频
Drug toxicity: Idiosyncratic Reactions
Idiosyncratic drug reactions represent abnormal chemical responses that vary significantly among individuals, ranging from extreme sensitivity to low doses to insensitivity to high doses. These reactions often occur due to the drug's covalent binding with serum proteins, forming a foreign hapten that triggers an immunotoxicological response. The variability in drug reactions has a strong pharmacogenetic foundation, with genetic differences crucial in how individuals metabolize drugs. For...
Cardiovascular System Abnormal Findings I: Inspection and Palpation
In a cardiovascular examination, inspection and palpation are crucial for identifying abnormalities.
Abnormal findings observed during an inspection
Abnormal findings observed during an inspection
Endocarditis II: Clinical Features of Infective Endocarditis
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
Myocarditis II: Clinical Features and Diagnostic Tests
Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
Hypertension III: Clinical Manifestations and Diagnostic Studies
Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
Hepatitis
Hepatitis is an inflammatory condition of the liver most commonly caused by hepatotropic viruses (A–E), though non-infectious causes such as alcohol and drugs also exist.Hepatitis AHepatitis A virus (HAV) is a non-enveloped RNA virus of the Picornaviridae family. It is primarily transmitted via the fecal-oral route, typically through ingestion of contaminated food or water. After ingestion, HAV enters the bloodstream through the oropharynx or intestinal epithelium and reaches the liver. The...


