Genetic Diseases That Predispose to Early Liver Cirrhosis

Scorza, Manuela; Elce, Ausilia; Zarrilli, Federica; Liguori, Renato; Amato, Felice; Castaldo, Giuseppe

doi:10.1155/2014/713754

Cited by 23 publications

(19 citation statements)

References 110 publications

(124 reference statements)

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“…Medical treatment during the acute presentation of urea cycle disorders is based initially on reducing blood ammonia levels by (a) discontinuing protein intake and supplying sufficient glucose intravenously to limit catabolism (b) providing biochemical alternatives for nitrogen excretion as intravenous or oral sodium benzoate and phenylacetate [ 138 , 139 ]. Long-term dietary protein restriction is paramount.…”

Section: Special Considerations In Pediatric Ltmentioning

confidence: 99%

“…Arginine supplementation is therefore essential in argininosuccinic aciduria or argininemia to increase nitrogen excretion. However, in carbamyl phosphate synthetase or ornithine transcarbamylase deficiency, citrulline supplementation is preferred [ 137 , 138 , 139 ].…”

Section: Special Considerations In Pediatric Ltmentioning

confidence: 99%

“…Mannose or Fucose supplementations are essential in some congenital disorders of glycosylation. Dextrose 10% infusion suppresses heme synthesis in porphyria [ 137 , 138 , 139 ]. A further comprehensive and detailed discussion of age-specific nutritional treatment in pediatric LT is warranted.…”

Section: Special Considerations In Pediatric Ltmentioning

confidence: 99%

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Nutritional Therapy in Liver Transplantation

et al. 2017

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Protein-energy malnourishment is commonly encountered in patients with end-stage liver disease who undergo liver transplantation. Malnutrition may further increase morbidity, mortality and costs in the post-transplantation setting. The importance of carefully assessing the nutritional status during the work-up of patients who are candidates for liver replacement is widely recognized. The metabolic abnormalities induced by liver failure render the conventional assessment of nutritional status to be challenging. Preoperative loss of skeletal muscle mass, namely, sarcopenia, has a significant detrimental impact on post-transplant outcomes. It is essential to provide sufficient nutritional support during all phases of liver transplantation. Oral nutrition is preferred, but tube enteral nutrition may be required to provide the needed energy intake. Herein, the latest currently employed perioperative nutritional interventions in liver transplant recipients are thoroughly illustrated including synbiotics, micronutrients, branched-chain amino acid supplementation, immunonutrition formulas, fluid and electrolyte balance, the offering of nocturnal meals, dietary counselling, exercise and rehabilitation.

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Section: Special Considerations In Pediatric Ltmentioning

confidence: 99%

Section: Special Considerations In Pediatric Ltmentioning

confidence: 99%

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Nutritional Therapy in Liver Transplantation

et al. 2017

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“…). She had a peculiar fondness for protein‐ and fat‐rich foods and an aversion to carbohydrate‐rich foods, as has been described for citrin deficiency . Blood examination showed a markedly elevated serum pancreatic secretory trypsin inhibitor (PSTI) level (Table ).…”

Section: Case Reportmentioning

confidence: 86%

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

Inui

Hashimoto

Sogo

et al. 2015

Hepatology Research

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Citrin deficiency manifests as both neonatal intrahepatic cholestasis (NICCD) during early infancy and adult-onset type II citrullinemia during adulthood. Hepatic steatosis is most frequently observed in patients with citrin deficiency. Thus, non-alcoholic fatty liver disease that is unrelated to being overweight is considered one of the clinical features of citrin deficiency in children and adults. However, it remains unknown whether citrin deficiency is a cause of chronic hepatitis in the absence of fatty changes to the liver that occur during childhood. We encountered an 8-year-old girl who showed no clinical features of NICCD during infancy and had persistently elevated transaminase levels for several years. Liver biopsy showed widening of the portal tracts with intense mononuclear cell infiltration and mild fibrosis but no fatty changes. However, she had peculiar dietary habits similar to those that have been observed in many patients with citrin deficiency. In addition, a slightly elevated plasma citrulline level and a high pancreatic secretory trypsin inhibitor level were detected by blood examination, and she was diagnosed with citrin deficiency. Analysis of the SLC25A13 gene revealed the presence of the compound heterozygous mutations 851del4 and IVS13 + 1G > A. Thus, citrin deficiency should be included in the differential diagnosis of chronic hepatitis in children, even in the absence of hepatic steatosis.

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“…Irrespective of age and extent of hepatic injury, many metabolic and genetic diseases may cause harmful effects on liver. Hence, the advancement in the ield of genetics is pivotal in inding pathophysiology and new diagnostic strategies for inherited hepatic disorders [25].…”

Section: Discussionmentioning

confidence: 99%

Evaluation of unexplained clinical features of hepatic diseases through biopsies among hospitalized children: A cross-sectional study in Lahore, Pakistan

Azhar¹

2018

J Clin Intensive Care Med

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Objectives: There are variations in therapeutic regimens of different liver diseases. The accurate diagnosis ensures prompt recovery from these diseases. The present study aimed to evaluate the underlying causes of unexplained signs and symptoms associated with liver diseases through biopsies. Methods: A retrospective study was conducted in a public child care specialty of Lahore, Pakistan. The data was collected from medical records of the patients who were index hospitalized with unexplained clinical presentation of liver disease between 1st July, 2017 and 31st December, 2017. Data were analyzed by using Statistical Packages for Social Sciences (IBM SPSS Statistics for Windows, Version 21.0. Armonk, NY: IBM Corp.), and Microsoft Excel (MS Offi ce 2010). Results: Overall, the records of 53 patients were selected for the study. Most of them were 11 to 15 years of age. The patients were presented with unexplained hepatomegaly (60.4%) and jaundice (40.7%) during index hospitalization which made them eligible for liver biopsy (LB). The fi ndings of LB revealed that the underlying causes of liver diseases in most of the cases were metabolic (33.9%) and infl ammatory disorders (22.6%). Majority of the patients were ≤4 years of age, however cryptogenic cirrhosis (39.1%) was commonly found in >10 years of age. Although most of the patients were suffering from metabolic disorders (p-value=0.07) and liver cirrhosis (p-value=0.08) but these were not statistically signifi cant. Conclusion: LB was benefi cial in evaluating the etiologies of unexplained signs and symptoms of liver diseases. It was found that glycogen storage diseases and liver cirrhosis were the most common etiologies of liver diseases among pediatric patients. But etiologies like metabolic and infl ammatory diseases were insignifi cantly associated with gender.

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Genetic Diseases That Predispose to Early Liver Cirrhosis

Cited by 23 publications

References 110 publications

Nutritional Therapy in Liver Transplantation

Nutritional Therapy in Liver Transplantation

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

Evaluation of unexplained clinical features of hepatic diseases through biopsies among hospitalized children: A cross-sectional study in Lahore, Pakistan

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