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 signifcant 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.
KUANG Jian,ZHENG Xiang-Rong,ZHANG Guo-Yuan et al. Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl[J]. CJCP, 2019, 21(3): 282-286.
KUANG Jian,ZHENG Xiang-Rong,ZHANG Guo-Yuan et al. Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl[J]. CJCP, 2019, 21(3): 282-286.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424.
[3]
Kamath BM. Alagille syndrome[M]//Suchy FJ, Sokal RJ,Balistreri WF, et al. Liver disease in children. 3rd ed. New York:Cambridge University Press, 2007:326-345.
[4]
Guru Murthy GS, Rana BS, Das A, et al. Alagille syndrome:a rare disease in an adolescent[J]. Dig Dis Sci, 2012, 57(11):3035-3037.
[5]
Alagille D, Odièvre M, Gautier M, et al. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur[J]. J Pediatr, 1975, 86(1):63-71.
[6]
Kamath BM, Yin W, Miller H, et al. Outcomes of liver transplantation for patients with Alagille syndrome:the studies of pediatric liver transplantation experience[J]. Liver Transpl, 2012, 18(8):940-948.
[7]
Turnpenny PD, Ellard S. Alagille syndrome:pathogenesis, diagnosis and management[J]. Eur J Hum Genet, 2012, 20(3):251-257.
[8]
Jurkiewicz D, Gliwicz D, Ciara E, et al. Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome[J]. J Appl Genet, 2014, 55(3):329-336.
Kamath BM, Podkameni G, Hutchinson AL, et al. Renal anomalies in Alagille syndrome:A disease-defning feature[J]. Am J Med Genet A, 2012, 158A(1):85-89.
[14]
Kamath BM, Spinner NB, Rosenblum ND. Renal involvement and the role of Notch signalling in Alagille syndrome[J]. Nat Rev Nephrol, 2013, 9(7):409-418.
[15]
Shrivastava R, Williams A, Mikhail A, et al. An unusual cause of hypertension and renal failure:a case series of a family with Alagille syndrome[J]. Nephrol Dial Transplant, 2010, 25(5):1501-1506.
[16]
Bérard E, Sarles J, Triolo V, et al. Renovascular hypertension and vascular anomalies in Alagille syndrome[J]. Pediatr Nephrol, 1998, 12(2):121-124.
[17]
Salem JE, Bruguiere E, Iserin L, et al. Hypertension and aortorenal disease in Alagille syndrome[J]. J Hypertens, 2012, 30(7):1300-1306.
[18]
Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome:a signifcant cause of morbidity and mortality[J]. Circulation, 2004, 109(11):1354-1358.
[19]
Zhang P, Yan XC, Chen Y, et al. Notch signaling in blood vessels:from morphogenesis to homeostasis[J]. Sci China Life Sci, 2014, 57(8):774-780.
Hirai H, Santo Y, Kogaki S, et al. Successful stenting for renal artery stenosis in a patient with Alagille syndrome[J]. Pediatr Nephrol, 2005, 20(6):831-833.
