Cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

Hyperbilirubinemia

An increased amount of bilirubin in the blood.


Total: 2

                       


(per page)
PMID (PMCID)
27806795
 MIXED_SAMPLE Infant, Newborn
[Infantile cholestasis caused by CFTR mutation: case report and literature review].
Li L, Wang NL, Gong JY, Wang JS.
Zhonghua Er Ke Za Zhi. 2016;54(11):851-855.
(2) Literatures review identified 25 infantile cholestatic cases related to cystic fibrosis (CF) diagnosed by sweat test or gene analysis.Delayed meconium passage was found in five, meconium ileus in six cases.The liver function tests characterized by the direct hyperbilirubinemia with elevated transaminase, glutamyltranspeptidase and alkaline phosphatase levels.Genetic analysis revealed eight homozygotes of delF508, four heterozygotes of delF508 and one compound heterozygotes of c. 263T>G/ c. 2089-2090ins in CFTR.Jaundice resolved in 20 patients, ten of them were prescribed oral ursodesoxycholic acid (15-20 mg/(kgd)).
22900448
 MALE
Hyperbilirubinemic stain: location and extent in dental tissues.
Bimstein E, Magliocca K, Cohen D, Morelli G, Katz J.
J Clin Pediatr Dent. 2011;36(1):75-8.
The purpose of the present manuscript is to describe the location and extent of hyperbilirubinemic stain in a primary molar of a 3-year-old who was diagnosed with cystic fibrosis shortly after birth, subsequently developed liver disease and hyperbilirubinemia, and received a liver transplant at age 10-months.