怀孕期间的克里格勒-纳贾尔综合征II型病例及其管理
Sukanya Singh1, Surekha Tayade1, Nidhi Makhija1
1Department of Obstetrics and Gynaecology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Cureus
|May 27, 2024
概括
克里格勒-纳贾尔综合征 (CNS) 是一种罕见的遗传疾病,影响胆红素代谢. 本案例研究详细介绍了一位患有中枢神经系统II型的母亲的成功怀孕管理,导致了一个健康的婴儿.
科学领域:
- 遗传学 是一个遗传学.
- 肝病学 肝病学是一种肝病学.
- 新生儿科学 新生儿科学
背景情况:
- 克里格勒-纳贾尔综合征 (Crigler-Najjar syndrome,简称CNS) 是一种自体逆性遗传性疾病,其特征是由于尿素二酸葡萄糖转移酶 (UDPGT) 活性减少或不存在而导致胆红素代谢受损.
- 在UGT1A1基因的突变导致中枢神经系统,导致高白血症. 它存在两种类型:中枢神经系统类型I (严重,几乎没有UDPGT活动) 和中枢神经系统类型II (不那么严重).
- 孕产妇的中枢神经系统,特别是II型,对怀孕管理提出了独特的挑战,影响到母亲和婴儿,对其全部影响的理解有限.
相关概念视频
Diabetes Mellitus: Type 2 and Gestational
2.3K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
2.3K
Esophageal Varices-II: Clinical Features and Management
60
Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
60
Pathophysiology of Diabetes
921
Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
921
Chronic Pancreatitis II: Collaborative Care
84
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
Assessment:
84
Acute Pancreatitis II: Clinical Manifestations and Management
119
Acute pancreatitis presents a complex medical emergency characterized by rapid onset inflammation of the pancreas, demanding timely diagnosis and management to prevent complications. The condition primarily manifests through severe upper abdominal pain that often radiates to the back. This pain intensifies following the consumption of fatty foods. Accompanying symptoms such as nausea, vomiting, abdominal distention, fever, dyspnea, cyanosis, and jaundice can vary in intensity but significantly...
119
Gastroesophageal Reflux Disease II: Clinical Features and Management
69
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...
69


