Crigler-Najjar syndrome
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Crigler-Najjar syndrome
Gastrointestinal system
Congenital disorders
Disorders of the liver and biliary system
Acute cholecystitis
Ascending cholangitis
Biliary colic
Chronic cholecystitis
Gallstone ileus
Gallstones
Alcohol-induced liver disease
Alpha 1-antitrypsin deficiency
Budd-Chiari syndrome
Cholestatic liver disease
Cirrhosis
Crigler-Najjar syndrome
Dubin-Johnson syndrome
Gilbert's syndrome
Hemochromatosis
Hepatic encephalopathy
Hepatitis
Jaundice
Neonatal hepatitis
Non-alcoholic fatty liver disease
Portal hypertension
Primary biliary cirrhosis
Primary sclerosing cholangitis
Reye syndrome
Rotor syndrome
Wilson disease
Disorders of the oral cavity, salivary glands, and esophagus
Achalasia
Barrett esophagus
Diffuse esophageal spasm
Gastroesophageal reflux disease (GERD)
Mallory-Weiss syndrome
Plummer-Vinson syndrome
Zenker diverticulum
Aphthous ulcers
Dental abscess
Dental caries disease
Gingivitis and periodontitis
Ludwig angina
Oral candidiasis
Parotitis
Sialadenitis
Temporomandibular joint dysfunction
Disorders of the pancreas
Disorders of the peritoneal cavity
Disorders of the stomach, small intestine, colon, rectum, and anus
Anal fissure
Anal fistula
Hemorrhoid
Rectal prolapse
Appendicitis
Bowel obstruction
Diverticulosis and diverticulitis
Gallstone ileus
Gastroenteritis
Hirschsprung disease
Intussusception
Irritable bowel syndrome
Ischemic colitis
Lactose intolerance
Microscopic colitis
Necrotizing enterocolitis
Protein losing enteropathy
Short bowel syndrome (NORD)
Small bowel bacterial overgrowth syndrome
Small bowel ischemia and infarction
Tropical sprue
Volvulus
Whipple's disease
Cyclic vomiting syndrome
Gastric dumping syndrome
Gastritis
Gastroparesis
Peptic ulcer
Infectious, immunologic, and inflammatory disorders
Neoplasms
Gallbladder cancer
Esophageal cancer
Benign liver tumors
Hepatocellular adenoma
Hepatocellular carcinoma
Carcinoid syndrome
Pancreatic neuroendocrine neoplasms
Zollinger-Ellison syndrome
Oral cancer
Warthin tumor
Pancreatic cancer
Colorectal cancer
Colorectal polyps
Familial adenomatous polyposis
Gardner syndrome
Juvenile polyposis syndrome
Peutz-Jeghers syndrome
Gastric cancer
Traumatic and mechanical disorders
Gastrointestinal system pathology review
Congenital gastrointestinal disorders: Pathology review
Cirrhosis: Pathology review
Gallbladder disorders: Pathology review
Jaundice: Pathology review
Esophageal disorders: Pathology review
Nasal, oral and pharyngeal diseases: Pathology review
Pancreatitis: Pathology review
Appendicitis: Pathology review
Diverticular disease: Pathology review
GERD, peptic ulcers, gastritis, and stomach cancer: Pathology review
Malabsorption syndromes: Pathology review
Inflammatory bowel disease: Pathology review
Viral hepatitis: Pathology review
Colorectal polyps and cancer: Pathology review
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Gastrointestinal bleeding: Pathology review
Evaluaciones
Flashcards
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USMLE® Step 1 questions
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High Yield Notes
6 pages
Flashcards
Crigler-Najjar syndrome
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Preguntas
Preguntas del estilo USMLE® Step 1
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A 5-month-old female is brought to the pediatrician for evaluation of jaundice that began after a viral upper respiratory tract infection. She was born at 39 weeks gestation to a 27-year-old, gravida 1 para 1, woman via spontaneous vaginal delivery. The patient has been meeting developmental milestones. Family history is noncontributory. Physical examination shows scleral icterus and diffuse jaundice. Abdominal and neurological exams are unremarkable. Blood testing is performed and reveals the following:
Phenobarbital is administered, and repeat total serum bilirubin is measured at 7 mg/dL. Which of the following best describes the cause of this patient’s condition?
| Laboratory value | Result |
| Hemoglobin | 13.9 mg.dL |
| Leukocyte count | 6,800/mm3 |
| Total bilirubin | 12.7 mg/dL |
| Conjugated bilirubin | 0.3 mg/dL |
| Alanine aminotransferase | 15 U/L |
| Aspartate aminotransferase | 16 U/L |
External References
First Aid
2024
2023
2022
2021
Crigler-Najjar syndrome p. 400, 401
presentation p. 724
Jaundice p. 400
Crigler-Najjar syndrome p. 724
Resumen
Crigler-Najjar syndrome is an inherited disorder that affects the ability to break down bilirubin, a pigment produced when red blood cells are broken down. Crigler-Najjar syndrome is caused by the absence (type I) or reduced activity (type II) of the enzyme UDP-glucuronosyltransferase, and people having this disease present with high levels of bilirubin in their blood, which can cause yellowing of the skin and eyes (jaundice), dark urine, lightheadedness, confusion, and coma. The severity of symptoms varies among people with this condition.