[Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl].
Zhongguo Dang Dai Er Ke Za Zhi
; 21(3): 282-286, 2019 Mar.
Article
in Zh
| MEDLINE
| ID: mdl-30907355
ABSTRACT
A girl, aged 8 years, developed jaundice and liver dysfunction in the neonatal period, with congenital glaucoma diagnosed on day 5 after birth, hypertension and unusual facies (broad forehead, hypertelorism and deep-set eyes). Cholestasis was the main type of liver dysfunction. Cardiac macrovascular CTA showed stenosis at the abdominal aorta and the beginning of the bilateral renal arteries. Whole exon sequencing revealed a heterozygous frameshift mutation, c.1485delC (absence of cytosine), in exon 12 of the JAG1gene. The girl was diagnosed with Alagille syndrome and was given transaminase-lowering, cholagogic and antihypertensive treatment with multiple drugs. There were significant reductions in serum levels of alanine aminotransferase, aspartate aminotransferase and total bile acid, but blood pressure fluctuated between 102-140 mm Hg/53-89 mm Hg. After renal artery angiography and balloon dilatation angioplasty, the girl was given oral administration of antihypertensive drugs, and blood pressure was controlled at a level of 110-120 mm Hg/60-80 mm Hg. The rare disease Alagille syndrome should be considered when a child has refractory hypertension with the involvement of multiple systems, especially liver dysfunction with cholestasis as the main manifestation. Genetic causes should be analyzed for a early diagnosis.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hypertension
/
Liver Diseases
Type of study:
Etiology_studies
/
Screening_studies
Limits:
Child
/
Female
/
Humans
Language:
Zh
Journal:
Zhongguo Dang Dai Er Ke Za Zhi
Year:
2019
Type:
Article
Affiliation country:
China