日本的17q12删除综合征具有复杂的临床表现
Yutaka Hasegawa1, Yoshihiko Takahashi1, Kan Nagasawa1
1Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan.
Internal medicine (Tokyo, Japan)
|March 3, 2024
概括
17q12删除综合征是一种罕见的遗传疾病,呈现出各种症状. 这一案例突出了年轻5型糖尿病的成熟发病情况以及35岁患者的脏,肝脏和胰腺问题.
科学领域:
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- 17q12删除综合征是一种罕见的染色体异常,由染色体17q12的异构性删除引起.
- 这种综合征的特点是具有广泛的可变表型.
- 了解完整的临床表现对于诊断和管理至关重要.
相关概念视频
Sex-linked Disorders
102.1K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.1K
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
160
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
160
Other Disorders of Digestive System
829
The gastrointestinal tract is susceptible to various disorders. If the lower esophageal sphincter is damaged, stomach acid can flow back into the esophagus, causing irritation and inflammation of the lining. This condition is called gastroesophageal reflux disease (known as heartburn) and may cause chest pain and difficulty swallowing. In the stomach, prolonged use of nonsteroidal anti-inflammatory drugs like aspirin, chronic alcohol consumption, bacterial infections such as Helicobacter...
829
Disorders of the Nervous Tissue
1.3K
Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
1.3K
Barrett Esophagus-II: Clinical Manifestations and Management
150
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...
150
Disorders of Leukocytes
950
Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
950


