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.

Hepatomegaly

Abnormally increased size of the liver.


Total: 4

                       


(per page)
PMID (PMCID)
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).
2726354
 MALE Infant
Massive hepatomegaly, steatosis, and secondary plasma carnitine deficiency in an infant with cystic fibrosis.
Treem WR, Stanley CA.
Pediatrics. 1989;83(6):993-7.
Hepatomegaly and steatosis are common findings in children with cystic fibrosis and are most often attributed to malnutrition.
2726354
 MALE Infant
Massive hepatomegaly, steatosis, and secondary plasma carnitine deficiency in an infant with cystic fibrosis.
Treem WR, Stanley CA.
Pediatrics. 1989;83(6):993-7.
Massive hepatomegaly, steatosis, and secondary plasma carnitine deficiency in an infant with cystic fibrosis.
3313024
 FEMALE Infant
[Massive fatty liver in cystic fibrosis in infancy].
Koepp P, Winkler P, Schafer HJ, Moncayo F.
Monatsschr Kinderheilkd. 1987;135(9):655-7.
Cystic fibrosis is diagnosed in an infant with dystrophy and hepatomegaly by ultrasonography, liver-biopsy and sweat-test.