Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child

Inui, Ayano; Hashimoto, Takuji; Sogo, Tsuyoshi; Komatsu, Haruki; Saheki, Takeyori; Fujisawa, Tomoo

doi:10.1111/hepr.12559

Cited by 9 publications

(7 citation statements)

References 30 publications

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“…CTLN2 is the adult-onset hyperammonemic encephalopathy form of CD in which a variety of hepatic involvements have been reported. ALF was reported in an 8-year-old girl without encephalopathy (Inui et al 2015). Similar histological patterns as NICCD have been described, with micro-and macrovesicular steatosis ( (Tanaka et al 2002(Tanaka et al , 2007.…”

Section: Ctln2supporting

confidence: 66%

Liver involvement in urea cycle disorders: a review of the literature

Bigot¹,

Tchan²,

Thoreau³

et al. 2017

J of Inher Metab Disea

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Urea cycle disorders (UCDs) are inborn errors of metabolism of the nitrogen detoxification pathway and encompass six principal enzymatic deficiencies. The aging of UCD patients leads to a better knowledge of the long-term natural history of the condition and to the reporting of previously unnoticed manifestations. Despite historical evidence of liver involvement in UCDs, little attention has been paid to this organ until recently. Hence, we reviewed the available scientific evidence on acute and chronic liver dysfunction and liver carcinogenesis in UCDs and discuss their pathophysiology. Overall, liver involvement, such as acute liver failure or steatotic-like disease, which may evolve toward cirrhosis, has been reported in all six main UCDs. Excessive glycogen storage is also a prominent histologic feature, and hypoglycemia has been reported in citrin deficiency. Hepatocarcinomas seem frequent in some UCDs, such as in citrin deficiency, and can sometimes occur in non-cirrhotic patients. UCDs may differ in liver involvement according to the enzymatic deficiency. Ornithine transcarbamylase deficiency may be associated more with acute liver failure and argininosuccinic aciduria with chronic liver failure and cirrhosis. Direct toxicity of metabolites, downstream metabolic deficiencies, impaired tricarboxylic acid cycle, oxidative stress, mitochondrial dysfunction, energy deficit, and putative toxicity of therapies combine in various ways to cause the different liver diseases reported.

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Section: Ctln2supporting

confidence: 66%

Liver involvement in urea cycle disorders: a review of the literature

Bigot¹,

Tchan²,

Thoreau³

et al. 2017

J of Inher Metab Disea

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show abstract

“…However, detailed information on the genetic mutations, symptoms, and outcomes was not available [ 2 ]. Inui et al [ 3 ] described an 8-year-old girl with an SLC25A13 mutation who showed no fatty changes of the liver by light microscopy. In this patient, very small fatty droplets were observed by electron microscopy [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report

et al. 2021

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Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common form of neonatal jaundice. Histopathological examination of the liver in patients with NICCD typically shows fatty liver, steatohepatitis, and liver fibrosis. Jaundice and fatty liver often improve by 1 year of age. We herein describe a girl who was diagnosed with NICCD based on an SLC25A13 mutation, although no fatty deposits were found on pathologic examination of the liver. Case presentation The patient in this case was a 3-month-old girl. At 2 months of age, she presented with jaundice, discolored stools, and poor weight gain and was found to have hyperbilirubinemia. Cholangiography revealed that she did not have biliary atresia. A laparoscopic liver biopsy was performed, and liver histopathology showed no fatty deposits. Genetic analysis revealed a compound heterozygous mutation in SLC25A13, and she was diagnosed with NICCD. She was given medium-chain triglyceride milk and gained weight. She resumed consumption of normal milk and breast milk, and her stool color improved. She was discharged at 4 months of age with adequate weight gain and a lower total bilirubin concentration. She was in good condition after discharge and showed normal development at the time of outpatient follow-up. Conclusions We experienced a case of NICCD in a patient without fatty liver. This case illustrates that the absence of hepatic steatosis in neonatal cholestasis does not rule out NICCD.

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“…While we did not analyze the mechanism of the latent appearance of overt clinical features of CTLN2 in our patient, it is possible that such a phenotype is more likely to be seen in females than males, based on a possible gender difference in resistance to the onset of CTLN2 and the suppression of fat deposition in the liver. In this regard, Inui et al (20) also reported an 8-year-old girl with CTLN2 who presented with chronic hepatitis without hepatic steatosis.…”

Section: Discussionmentioning

confidence: 95%

The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies

et al. 2019

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Adult-onset type II citrullinemia (CTLN2) is a urea cycle disease characterized by neurological and psychiatric abnormalities associated with hyperammonemia. One of the pathological features of CTLN2 is the presence of hepatocyte steatosis. The condition progresses in almost all CTLN2 patients to nonalcoholic fatty liver disease (NAFLD). We herein report a 74-year-old woman who developed CTLN2 without hepatocyte steatosis. The diagnosis was based on clinical and laboratory findings and confirmed by two liver biopsies conducted within 7 years, as well as by a DNA analysis, which demonstrated mutations in the SLC25A13 gene. We describe a rare CTLN2 case without hepatocyte steatosis in an elderly woman who responded well to a low-carbohydrate diet.

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Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child

Cited by 9 publications

References 30 publications

Liver involvement in urea cycle disorders: a review of the literature

Liver involvement in urea cycle disorders: a review of the literature

Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report

The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies

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