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.

Jaundice

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.


Total: 12

                       


(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)).
27143075
 MIXED_SAMPLE Infant, Newborn
[Molecular diagnosis of two Chinese cystic fibrosis children and literature review].
Xu BP, Wang H, Zhao YH, Liu J, Yao Y, Feng XL, Shen KL.
Zhonghua Er Ke Za Zhi. 2016;54(5):344-8.
One of the two newly diagnosed cystic fibrosis cases was a 10-year old girl who suffered from reccurent cough with expectoration and associated with cirrhosis.Sweat tests showed increased chloride twice with the lower level of 306.82 mmol/L.The other was an 8-month old boy with reccurent pneumonia from neonate, failure to thrive and fatty diarrhea.Two children had various degrees of bronchiectasis and massive sticky secretion on the bronchoscopy.They had no family history and their parents had no consanguineous marriage.CFTR mutations of c. 595C>T and c. 2290C>T were found in gene tests.On the database, twenty-one reports involving thirty-six Chinese patients (16 males and 20 females) were retrieved.Together with this group of 2 cases, a total of 38 cases were involved.The age at diagnosis was 4 months to 28 years with a median age of 10 years.All patients had reccurent respiratory infections, twenty-seven cases (71%) had malnutrition, fifteen (39%)had chronic diarrhea, and 16 cases (42%) had other digestive manifestations, including jaundice (4 cases), hepatomegaly (11 cases), ascites (2 cases) and pancreatic atrophy (3 cases).
9044117
 MIXED_SAMPLE Infant
Biliary obstruction in infants with cystic fibrosis requiring Kasai portoenterostomy.
Greenholz SK, Krishnadasan B, Marr C, Cannon R.
J Pediatr Surg. 1997;32(2):175-9; discussion 179-80.
From 1990 to 1995 three infants were identified with cystic fibrosis, persistent jaundice, and complete absence of biliary excretion despite expectant and conservative treatment including choleretics and surgical biliary irrigation.
9044117
 MIXED_SAMPLE Infant
Biliary obstruction in infants with cystic fibrosis requiring Kasai portoenterostomy.
Greenholz SK, Krishnadasan B, Marr C, Cannon R.
J Pediatr Surg. 1997;32(2):175-9; discussion 179-80.
This manifestation of cystic fibrosis in infants is suggested by prolonged jaundice unresponsive to choleretics, nondilated bile ducts and gallbladder on ultrasound, absent biliary excretion on nuclear scan, and characteristic liver biopsy.
9296240
 MIXED_SAMPLE Infant, Newborn
Ursodeoxycholic acid improves cholestasis in infants with cystic fibrosis.
Scher H, Bishop WP, McCray PB Jr.
Ann Pharmacother. 1997;31(9):1003-5.
Two infants with cystic fibrosis (CF)-associated hepatobiliary disease, manifesting as cholestatic jaundice and elevated liver enzymes within the first 6 weeks of life, had improved biochemical indices of liver function following treatment with UDCA 20-40 mg/kg/d.
1676409
 MALE Infant, Newborn
Neonatal hepatitis syndrome with paucity of interlobular bile ducts in cystic fibrosis.
Furuya KN, Roberts EA, Canny GJ, Phillips MJ.
J Pediatr Gastroenterol Nutr. 1991;12(1):127-30.
Cystic fibrosis is thus another disease that may be associated with paucity of interlobular bile ducts presenting as neonatal hepatitis syndrome, and this represents a different pathogenesis of cholestatic jaundice in neonates with cystic fibrosis besides those previously recognized.
1676409
 MALE Infant, Newborn
Neonatal hepatitis syndrome with paucity of interlobular bile ducts in cystic fibrosis.
Furuya KN, Roberts EA, Canny GJ, Phillips MJ.
J Pediatr Gastroenterol Nutr. 1991;12(1):127-30.
Cystic fibrosis is thus another disease that may be associated with paucity of interlobular bile ducts presenting as neonatal hepatitis syndrome, and this represents a different pathogenesis of cholestatic jaundice in neonates with cystic fibrosis besides those previously recognized.
3388979
 MIXED_SAMPLE Infant, Newborn
Neonatal jaundice in cystic fibrosis: a conservative approach is not always justified.
Festen C, Kuyper F, Holland R, van Haelst U.
Z Kinderchir. 1988;43(2):106-7.
Neonatal jaundice in cystic fibrosis: a conservative approach is not always justified.
3967446
 MALE Infant, Newborn
Cystic fibrosis mistaken for idiopathic biliary atresia.
Perkins WG, Klein GL, Beckerman RC.
Clin Pediatr (Phila). 1985;24(2):107-9.
Prolonged obstructive jaundice may be an early manifestation of cystic fibrosis and may resolve without operative management.
3967446
 MALE Infant, Newborn
Cystic fibrosis mistaken for idiopathic biliary atresia.
Perkins WG, Klein GL, Beckerman RC.
Clin Pediatr (Phila). 1985;24(2):107-9.
Previous reports of prolonged jaundice in cystic fibrosis have not described operative and histopathological findings in the liver and biliary tree.
3967446
 MALE Infant, Newborn
Cystic fibrosis mistaken for idiopathic biliary atresia.
Perkins WG, Klein GL, Beckerman RC.
Clin Pediatr (Phila). 1985;24(2):107-9.
A sweat test should be performed on all patients with prolonged obstructive neonatal jaundice to rule out cystic fibrosis.
7450404
 MALE Adult
Intrapancreatic common bile duct compression causing jaundice in an adult with cystic fibrosis.
Lambert JR, Cole M, Crozier DN, Connon JJ.
Gastroenterology. 1981;80(1):169-72.
Intrapancreatic common bile duct compression causing jaundice in an adult with cystic fibrosis.