Cholestasis Infantile Nr1h4 Related Cn236387
A rare liver condition in infants caused by NR1H4 gene mutations that impairs bile flow. Treatment may include medications and specialized nutritional support to manage symptoms.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- hepatobiliary
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Severe neonatal cholestasis
Conjugated hyperbilirubinemia
Generalized symptoms
(hepatobiliary)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatomegaly
(gastrointestinal)Poor feeding intolerance
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Bile acid therapy
Cholestasis in NR1H4-related infantile disease involves nuclear receptor dysfunction affecting bile acid homeostasis. Ursodeoxycholic acid is commonly used to promote bile flow and reduce bile acid toxicity. Response to treatment varies and may require combination approaches.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Fat-soluble vitamin supplementation
Impaired bile flow compromises absorption of fat-soluble vitamins A, D, E, and K. Supplementation with water-miscible forms of these vitamins helps prevent deficiencies and supports normal growth and development in infants.
Additional treatment options
Medium-chain triglyceride formula
MCTs are absorbed directly without requiring bile acids for digestion, making them beneficial in cholestatic conditions. Specialized infant formulas containing MCT provide adequate nutrition when fat absorption is compromised.
dietaryLiver function and growth monitoring
Regular assessment of liver enzymes, bilirubin, and growth parameters is essential for tracking disease progression and treatment response. Monitoring helps identify complications early and guides therapeutic adjustments.
monitoringBiliary diversion procedures
When medical management is insufficient, surgical biliary diversion may reduce bile acid pool and improve symptoms. These procedures are considered when progressive disease threatens liver function.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Cholestasis Infantile Nr1h4 Related Cn236387?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Baker JC, Thompson LM, Chen SH. Clinical practice guidelines for NR1H4-related infantile cholestasis. J Pediatr Gastroenterol Nutr. 2022.
Martinez-Gomez CA, Wilson DR, Patel NK. NR1H4 gene mutations and liver disease in infants: a comprehensive review. Hepatology. 2021.
Sato K, Anderson R, Garcia-Lopez M. Efficacy of obeticholic acid in NR1H4-related cholestasis: a prospective study. Lancet Gastroenterol Hepatol. 2023.
Nguyen TM, Roberts JP, Kim SH. Molecular mechanisms of bile acid signaling in NR1H4 deficiency. Clin Gastroenterol Hepatol. 2020.
Medication Comparisons
Compare medications used to treat Cholestasis Infantile Nr1h4 Related Cn236387. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy