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Disease Profile
Kernicterus
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
P57.9
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Bilirubin encephalopathy; Hyperbilirubinemic encephalopathy; Kernicterus spectrum disorder
Categories
Congenital and Genetic Diseases; Digestive Diseases; Nervous System Diseases;
Summary
Kernicterus refers to brain damage that may occur when neonatal jaundice goes untreated for too long. Physiologic neonatal
After a few days of jaundice, toxic levels of bilirubin in certain areas of the brain may cause signs and symptoms such as respiratory distress, muscle spasms, and/or low muscle tone (
Early detection and management of jaundice can prevent kernicterus. Phototherapy is the most commonly used method to prevent bilirubin toxicity. The definitive method of removing bilirubin from the blood is exchange transfusion.[4] While medications are not usually given to babies with physiologic neonatal jaundice, in some cases, phenobarbital (an inducer of liver bilirubin metabolism) has been used to reduce bilirubin levels in the blood during the first week of life.[2]
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
Toll-free: +1-800-465-4837
Telephone: +1-212-668-1000
E-mail: https://liverfoundation.org/for-patients/contact-us/
Website: https://liverfoundation.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Kernicterus. Click on the link to view a sample search on this topic.
References
- Bilirubin encephalopathy. MedlinePlus. April 2015; https://www.nlm.nih.gov/medlineplus/ency/article/007309.htm.
- Hansen TWR. Neonatal Jaundice Medication Updated. Medscape Reference. December 27, 2017; https://emedicine.medscape.com/article/974786-medication.
- Facts about Jaundice and Kernicterus. Centers for Disease Control and Prevention. February 2015; https://www.cdc.gov/ncbddd/jaundice/facts.html.
- Shelley C Springer, JD, MD, MSc, MBA, FAAP. Kernicterus. Medscape Reference. April 2014; https://emedicine.medscape.com/article/975276-overview.