一个小孩的吉特曼综合征与正常的血液检测结果,除了生病日
Shoichiro Shirane1, Shogo Amemiya1, Yuya Saito1
1Department of Pediatrics, Tokyo Metropolitan Tama-Hokubu Medical Center, Tokyo, Japan.
Nephrology (Carlton, Vic.)
|April 23, 2025
概括
吉特曼综合征 (GS) 可以出现电解质和酸异常,特别是在疾病期间. 这一案例凸显了在患有不明原因的低血和代谢性病的患者中考虑GS的重要性,即便其他测试正常.
科学领域:
- 儿科脏病学 儿科脏病学
- 临床遗传学 临床遗传学
- 神经学 神经学
背景情况:
- 吉特曼综合征 (GS) 是一种罕见的遗传疾病,影响脏中的离子运输.
- 它通常表现为低血,代谢性和低磁性血.
相关概念视频
Glucose Transporters
22.2K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
22.2K
Inborn Errors of Metabolism
109
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
109
Serum Laboratory Studies, Stool Test, Breath Test
234
Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...
234
Pedigree Analysis
82.1K
Overview
82.1K
Overview of Protein Metabolism
529
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
529
Development of Immunocompetence
233
The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
233


