Hepatoportal Sclerosis in Childhood: Descriptive Analysis of 12 Patients

Cantez, Mustafa Serdar; Gerenli, Nelgin; Ertekin, Vildan; Güllüoğlu, Mine; Durmaz, Özlem

doi:10.3346/jkms.2013.28.10.1507

Cited by 17 publications

(13 citation statements)

References 23 publications

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“…Consistent with the hypothesis of an immunological pathogenesis, a high prevalence of serum Abs has been reported in both adult and paediatric series of INCPH (18,19). In particular, in the Japanese survey, 24.1% of patients with idiopathic PH turned out to be positive for ANA (18).…”

Section: Discussionmentioning

confidence: 64%

Obliterative portal venopathy without portal hypertension: an underestimated condition

Guido

Sarcognato

Sonzogni

et al. 2015

Liver International

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Section: Discussionmentioning

confidence: 64%

Obliterative portal venopathy without portal hypertension: an underestimated condition

Guido

Sarcognato

Sonzogni

et al. 2015

Liver International

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“…In the physiopathology of PHT the initiating step seems to be mesenteric splanchnic vasodilation. Previous studies have shown that splanchnic vasodilation is induced by a complex multifactorial mechanism, which is not completely understood [ 4 , 5 , 20 , 21 ]. Until now three mechanisms have been identified: increase in local and systemic vasodilator levels, splanchnic vascular hyporesponsiveness to vasoconstrictors [ 4 ] and mesenteric sympathetic atrophy [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Nitro-Oxidative Stress, Vegf and MMP-9 in Patients With Cirrhotic and Non-Cirrhotic Portal Hypertension

Muti

Pârvu

Crăciun

et al. 2015

Medicine and Pharmacy Reports

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Background and aimsNitro-oxidative stress may have pathophysiological consequences. The study aimed to assess the nitro-oxidative stress, the vascular growth factor, and metalloproteinase-9 levels in patients with noncirrohic and cirrhotic portal hypertension.MethodsPatients with noncirrhotic portal hypertension (n=50) and cirrhotic portal hypertension (n=50) from the 3rd Medical Clinic in Cluj-Napoca Romania were prospectively enrolled between October 2004 and October 2006. A control group of healthy volunteers (n=50) was also evaluated. Nitro-oxidative stress was assessed by measuring serum concentration of nitrites and nitrate, 3-nitrotyrosine, total oxidative status, total antioxidant reactivity, and oxidative stress index. Serum vascular growth factor and matrix metalloproteinase-9 were also determined.ResultsSerum nitrites and nitrate levels significantly increased in both noncirrhotic (p<0.001) and cirrhotic portal hypertension (p=0.057). 3-nitrotyrosine also increased in noncirrhotic (p=0.001) and cirrhotic portal hypertension patients (p=0.014). Total oxidative status showed a significant increase in noncirrhotic (p<0.001) and in cirrhotic portal hypertension (p<0.001), but total antioxidant reactivity did not change significantly. The oxidative stress index increased in both noncirrhotic (p <0.001) and cirrhotic portal hypertension (p<0.001), as well as the serum vascular growth factor (p=0.005 and p=0.01, respectively). In NCPHT patients serum MMP-9 was significantly lower than in the healthy controls (p=0.03) and CPHT patients (p=0.05).ConclusionIn patients with noncirrhotic and cirrhotic portal hypertension a significant systemic nitro-oxidative stress was found, correlated with an increase of VEGF. MMP-9 decreased in noncirrhotic portal hypertension.

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“…cirrhosis, known extrahepatic diseases, and splanchnic venous thrombosis at some point in the disease process. (4) INCPH has been reported in infancy and childhood, (5) and in some families more than one individual is affected. (6) Because rare childhood phenotypes are promising candidates for new Mendelian traits, we posit that genetic factors may underlie the onset and development of portal hypertension in a subset of these subjects.…”

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confidence: 99%

Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension

et al. 2016

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Despite advances in the diagnosis and management of idiopathic non-cirrhotic portal hypertension (INCPH), its pathogenesis remains elusive. Insight may be gained from study of early onset familial INCPH, in which Mendelian mutations may account for disease. We performed exome sequencing of 8 subjects from 6 kindreds with onset of portal hypertension of indeterminate etiology during infancy or childhood. Three subjects from two consanguineous families shared the identical rare homozygous p.N46S mutation in DGUOK, a deoxyguanosine kinase required for mitochondrial DNA replication; haplotype sharing demonstrated the mutation in the two families was inherited from a remote common ancestor. All three affected subjects had stable portal hypertension with non-cirrhotic liver disease for 6–16 years of follow-up. This mutation impairs ATP binding and reduces catalytic activity. Loss-of-function mutations in DGUOK have previously been implicated in cirrhosis and liver failure but not in isolated portal hypertension. Interestingly, treatment of patients with HIV infection with the nucleoside analog didanosine is known to cause portal hypertension in a subset of patients and lowers deoxyguanosine kinase levels in vitro; the current findings implicate these effects on deoxyguanosine kinase in the causal mechanism. CONCLUSION: Our findings provide new insight into the mechanisms mediating inherited and acquired non-cirrhotic portal hypertension, expand the phenotypic spectrum of DGUOK deficiency, and provide a new genetic test for a specific cause of INCPH.

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Hepatoportal Sclerosis in Childhood: Descriptive Analysis of 12 Patients

Cited by 17 publications

References 23 publications

Obliterative portal venopathy without portal hypertension: an underestimated condition

Obliterative portal venopathy without portal hypertension: an underestimated condition

Nitro-Oxidative Stress, Vegf and MMP-9 in Patients With Cirrhotic and Non-Cirrhotic Portal Hypertension

Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension

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