Liver cirrhosis and portal hypertension in cystic fibrosis

Introduction. As the expected survival improves in individuals with the cystic fibrosis (CF), so they may be faced with a number of medical complications. Objective. The aim of this study was to analyze the prevalence of liver cirrhosis in our CF population as well as the clinical and genetic characteristics of these patients. Methods. All patients older than 2 years (n=96) were screened for liver disease. Liver cirrhosis was defined by ultrasonographic findings of distinct heterogeneity of liver parenchyma and nodular liver surface and/or by liver biopsy findings. Enlarged spleen, distended portal vein and abnormal portal venous flow indicated portal hypertension. Clinical and genotype data were analyzed. Results. Sixteen patients were found to have liver cirrhosis, three of them with portal hypertension. All patients had pancreatic insufficiency. Nutritional status expressed as standard deviation score (Z score) for weight, height, and body mass index was as follows: zW=-0.40?1.24, zH=-0.83?1.02, and BMI=20.1?2.3. CF patients with liver cirrhosis generally had mild-to-moderate lung disease, with average FVC and FEV1 values of 97.1?16.5% of predicted and 87.9?23.5% of predicted, respectively. Genetic analysis showed high frequency of F508del mutation in the group with cirrhosis (90.6%). Conclusion. The prevalence of liver cirrhosis in our CF population older than 2 years was 16.6%. Patients with pancreatic insufficiency and severe CFTR mutations, especially F508del, were exposed to higher risk of developing liver cirrhosis. Liver cirrhosis has no significant impact on the pulmonary function and the nutritional status, until the end-stage liver disease.

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The condition of the hepatobiliary system in children with cystic fibrosis

Kazan medical journal ◽

10.17816/kmj2162 ◽

2012 ◽

Vol 93 (1) ◽

pp. 122-125

Author(s):

O V Kondratieva ◽

N V Rylova

Keyword(s):

Cystic Fibrosis ◽

Liver Cirrhosis ◽

Portal Hypertension ◽

Magnetic Resonance ◽

Liver Damage ◽

Vascular System ◽

Pancreatic Insufficiency ◽

Celiac Trunk ◽

Liver Parenchyma ◽

Hepatobiliary System

Presented was an overview of domestic and foreign literature on the condition of the hepatobiliary system in children with cystic fibrosis. Due to an increasing life expectancy of cystic fibrosis patients in the last decade, the frequency of complications from the hepatobiliary system (cholestatic hepatitis, portal hypertension, liver cirrhosis), which, according to various authors, range from 20 to 80%, also increases. The most pronounced changes in the liver and the gall bladder are characteristic for children with moderate pulmonary symptoms and predominantly with the intestinal form of the disease. The risk factors for liver damage in cystic fibrosis are - pancreatic insufficiency, «severe» mutation, male sex, meconium ileus in the past medical history and earlier age at which the disease was diagnosed. Complex ultrasound assessment of the liver parenchyma and blood flow in the portal vascular system and in the celiac trunk make it possible to specify the severity of fibrosis and to identify early signs of portal hypertension. Magnetic resonance imaging can confirm the presence of liver cirrhosis and determine collateral circulation associated with portal hypertension. Magnetic resonance cholangiography and radionuclide imaging make it possible to determine the status of intra- and extrahepatic biliary system. There is currently no effective treatment that could prevent the progression of liver damage. There are reports of the beneficial effects of ursodeoxycholic acid drugs. Perspective directions of treatment - liver transplantation and genetic engineering. Methods of conservative, endoscopic and surgical treatment of bleeding esophageal varices are used during the portal hypertension syndrome.

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An unusual presentation of epigastric pain due to thrombophlebitis of a recanalised umbilical vein – case report

Perspectives in Surgery ◽

10.33699/pis.2019.98.8.326-327 ◽

2019 ◽

Vol 98 (8) ◽

pp. 326-327 ◽

Cited By ~ 1

Keyword(s):

Liver Cirrhosis ◽

Abdominal Pain ◽

Case Report ◽

Portal Hypertension ◽

Liver Disease ◽

Epigastric Pain ◽

Umbilical Vein ◽

History Of ◽

Clinically Significant ◽

Inflammatory Changes

Introduction: The umbilical vein can become recanalised due to portal hypertension in patients with liver cirrhosis but the condition is rarely clinically significant. Although bleeding from this enlarged vein is a known complication, the finding of thrombophlebitis has not been previously described. Case report: We report the case of a 62-year-old male with a history of liver cirrhosis due to alcoholic liver disease presenting to hospital with epigastric pain. A CT scan of the patient’s abdomen revealed a thrombus with surrounding inflammatory changes in a recanalised umbilical vein. The patient was managed conservatively and was discharged home the following day. Conclusion: Thrombophlebitis of a recanalised umbilical vein is a rare cause of abdominal pain in patients with liver cirrhosis.

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Results of liver and spleen endoscopic ultrasonographic elastography predict portal hypertension secondary to chronic liver disease

Endoscopy International Open ◽

10.1055/a-1233-1934 ◽

2020 ◽

Vol 08 (11) ◽

pp. E1623-E1632

Author(s):

Carlos Robles-Medranda ◽

Roberto Oleas ◽

Miguel Puga-Tejada ◽

Manuel Valero ◽

Raquel Del Valle ◽

...

Keyword(s):

Liver Cirrhosis ◽

Portal Hypertension ◽

Liver Disease ◽

Chronic Liver Disease ◽

Predictive Value ◽

Strain Ratio ◽

Chronic Liver ◽

Spleen Stiffness ◽

Eus Elastography ◽

Sensitivity Specificity

Abstract Background and study aims Assessment of endoscopic ultrasonography (EUS)-elastography of the liver and spleen may identify patients with portal hypertension secondary to chronic liver disease. We aimed to evaluate use of EUS-elastography of the liver and spleen in identification of portal hypertension in patients with chronic liver disease. Patients and methods This was a single-center, diagnostic cohort study. Consecutive patients with liver cirrhosis and portal hypertension underwent EUS-elastography of the liver and spleen. Patients without a history of liver disease were enrolled as controls. The primary outcome was diagnostic yield of liver and spleen stiffness measurement via EUS-elastography in prediction of portal hypertension secondary to chronic liver cirrhosis. Cutoff values were defined through Youden’s index. Overall accuracy was calculated for parameters with an area under the receiver operating characteristic (AUROC) curve ≥ 80 %. Results Among the 61 patients included, 32 had cirrhosis of the liver. Liver and spleen stiffness was measured by the strain ratio and strain histogram, with sensitivity/(1 − specificity) AUROC values ≥ 80 %. For identification of patients with cirrhosis and portal hypertension, the liver strain ratio (SR) had a sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of 84.3 %, 82.8 %, 84.4 %, and 82.8 %, respectively; the liver strain histogram (SH) had values of 87.5 %, 69.0 %, 75.7 %, and 83.3 %, respectively. EUS elastography of the spleen via the SR reached a sensitivity, specificity, PPV, and NPV of 87.5 %, 69.0 %, 75.7 %, and 83.3 %, respectively, whereas the values of SH were 56.3 %, 89.7 %, 85.7 %, and 65.0 %, respectively. Conclusion Endoscopic ultrasonographic elastography of the liver and spleen is useful for diagnosis of portal hypertension in patients with cirrhosis.

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Clinical and genetic characteristics of rare pathogenic variants of the CFTR gene in Russian patients with cystic fibrosis

Russian Pulmonology ◽

10.18093/0869-0189-2021-31-2-148-158 ◽

2021 ◽

Vol 31 (2) ◽

pp. 148-158

Author(s):

A. Yu. Voronkova ◽

Yu. L. Melyanovskaya ◽

N. V. Petrova ◽

T. A. Adyan ◽

E. K. Zhekaite ◽

...

Keyword(s):

Cystic Fibrosis ◽

Genetic Variants ◽

Pancreatic Insufficiency ◽

Protein Energy Malnutrition ◽

Molecular Genetic ◽

Clinical Manifestations ◽

Cftr Gene ◽

Genetic Characteristics ◽

Missense Variants ◽

Pathogenic Variants

The variety of clinical manifestations of cystic fibrosis is driven by the diversity of the CFTR gene nucleotide sequence. Descriptions of the clinical manifestations in patients with the newly identified genetic variants are of particular interest.The aim of this study was to describe clinical manifestations of the disease with the newly identified genetic variants.Methods. Data from Registry of patients with cystic fibrosis in the Russian Federation (2018) were used. The data review included three steps — the search for frequent mutations, Sanger sequencing, and the search for extensive rearrangements by MLPA. 38 pathogenic variants were identified that were not previously described in the international CFTR2 database. We selected and analyzed full case histories of 15 patients with 10 of those 38 pathogenic variants: p.Tyr84*, G1047S, 3321delG, c.583delC, CFTRdele13,14del18, CFTRdele19-22, c.2619+1G>A, c.743+2T>A, p.Glu1433Gly, and CFTRdel4-8del10-11.Results. A nonsense variant p.Tyr84* was found in 5 patients (0.08 %). Two missense variants c.3139G>A were found in 2 siblings (0.03 %). The c.4298A>G was found in 1 patient. Other variants were detected in a single patient (0.02 %) each. They included two variants of a deletion with a shift of the reading frame 3321delG and c.583delC, two splicing disorders c.2619+1G>A and c.743+2T>A, three extended rearrangements CFTRdele19-22, CFTRdele13,14del18, and CFTRdel4-8del10-11. The last two variants include 2 rearrangements on one allele, which cause the severe course in two young children. 8 of the 10 variants are accompanied by pancreatic insufficiency (PI). Among patients with p.Tyr84*, one had ABPA, one had liver transplantation, and all had Pseudomonas aeruginosa infection. Nasal polyps were diagnosed in 2 patients with p.Tyr84*, 1 with G1047S, 1 with CFTRdel4-8del10-11, and 1 patient with 3321delG, who also had osteoporosis and cystic fibrosis-related diabetes (CFRD). 2 patients with PI with 3321delG and CFTRdel4-8del10-11 genetic variants, and 1 with PI with p.Glu1433Gly genetic variant had severe protein-energy malnutrition (PEM).Conclusion. Clinical manifestations of previously undescribed CFTR genetic variants were described. 5/10 genetic variants should be attributed to class I, 3/10 – to class 7 of the function classification of pathogenic CFTR gene variants associated with transcription and translation disruptions. Class of the identified missense variants c.3139G>A and c.4298A>G has not been established and requires further functional, cultural, and molecular genetic studies.

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The role of nutrition and pancreatic enzyme replacement therapy in children with cystic fibrosis

World Nutrition Journal ◽

10.25220/wnj.v04.i2.0011 ◽

2021 ◽

Vol 4 (2) ◽

pp. 84-93

Author(s):

Muzal Kadim ◽

William Cheng

Keyword(s):

Cystic Fibrosis ◽

Nutritional Status ◽

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Pancreatic Insufficiency ◽

Pancreatic Enzyme ◽

Nutritional Intervention ◽

Enzyme Replacement ◽

Pancreatic Enzyme Replacement Therapy

Background Cystic fibrosis (CF) is an inherited genetic disorder with high mortality and morbidity. CF is strongly correlated with malnutrition due to higher energy losses, pancreatic insufficiency, chronic inflammation, higher resting energy expenditure, and feeding problems. Malnutrition in CF patients associated with worse survival. Thus, appropriate and prompt nutritional intervention should be addressed to reduced malnutrition in CF patients. Methods The literature search was performed on 9 August 2021 in four major databases such as MEDLINE, EBSCOhost, Cochrane Reviews, and Web of Sciences to find the role of nutrition and pancreatic enzyme replacement therapy in pediatrics population with cystic fibrosis. Recent findings In recent decades, early nutritional management and pancreatic enzyme replacement therapy (PERT) have been shown to improve CF patient’s outcomes. Nutrition should be given in higher calories compared to healthy individuals with close and regular nutritional status monitoring. High protein and fat diets are essential for CF patient’s overall survival. Adequate level of micronutrients should be ensured to avoid morbidity caused by micronutrients deficiency. Regular pancreatic insufficiency screening should be done annually in order to start PERT early. Further research focusing on body composition, growth chart, protein intake, and PERT are needed to further improve the management of CF patient. Conclusion Nutritional intervention and PERT play an important role in prolonging CF patient survival. Both treatments should be initiated early with nutritional status close monitoring and tailored to each individual. Collaboration with parents and children is critical to warrant that CF patients followed the dietary advice.

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