一种不寻常的吉尔伯特综合征呈现
Akhila Chilakala1, Brenton G Davis1, Max Goldman1
1Kaiser Permanente San Francisco, San Francisco, CA.
ACG case reports journal
|June 23, 2025
概括
这份病例报告强调了一名24岁的男性,患有显著升高的间接高 bilirubinemia (10.3 mg/dL). 这个案例探讨了潜在的遗传因素,有助于超出典型的吉尔伯特综合征水平的非结合性高 bilirubinemia.
科学领域:
- 肝病学 肝病学是一种肝病学.
- 临床生物化学 临床生物化学
- 遗传学 遗传学 是一个
背景情况:
- 非结合性高 bilirubinemia 由增加的 bilirubin 生产,减少肝脏吸收,或受损结合的结果.
- 吉尔伯特综合征是一种常见的遗传原因,涉及UGT1A1基因突变,通常呈现出1.2-3.0 mg/dL的胆红素水平.
研究的目的:
- 报告明显升高的间接大胆血病病例.
- 讨论超白血症的非典型表现的诊断考虑因素.
主要方法:
- 一个24岁的男性患者的病例报告.
- 临床表现和实验室发现,包括胆红素水平.
主要成果:
- 患者呈现的间接高 bilirubinemia 10.3 mg/dL,明显高于典型的吉尔伯特综合征水平.
- 患者在其他情况下是无症状的,没有显著的病史.
结论:
- 这一案例说明了一种非典型的,严重的间接高 bilirubinemia的表现.
- 对于超出典型遗传倾向的不明原因的超白血症,可能需要进一步调查.
相关概念视频
Barrett Esophagus-II: Clinical Manifestations and Management
319
Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
319
Barrett Esophagus-I: Introduction
224
Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...
224
Upper GI Series: Barium Swallow
951
The Barium Swallow Study, or a Barium Esophagogram, is a diagnostic imaging method used to visualize the upper gastrointestinal (GI) tract, including the esophagus, stomach, and small intestine. It employs barium sulfate, a radiopaque contrast material, to provide clear images of the upper digestive system, helping to identify abnormalities, diseases, or structural issues.
Purpose and Procedure
Patients undergoing this procedure ingest a liquid containing barium sulfate with a chalky...
Purpose and Procedure
Patients undergoing this procedure ingest a liquid containing barium sulfate with a chalky...
951
Esophageal Strictures-II: Clinical Features and Management
164
Patients with esophageal strictures often experience a range of symptoms. Initially, they may have difficulty swallowing solid foods, which can progress to include liquids. Additional symptoms may involve chest pain or discomfort, regurgitating food and fluids, heartburn, unintentional weight loss, coughing or choking during meals, and hoarseness.
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
164
Pleiotropy
41.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.2K
Gastroesophageal Reflux Disease II: Clinical Features and Management
221
Gastroesophageal reflux disease, or GERD, is a persistent medical condition that affects many individuals worldwide. Its clinical manifestations can vary greatly, making diagnosis and management challenging for healthcare professionals. The following is a comprehensive overview of the clinical manifestations, assessment, and management strategies for GERD.
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
221


