scholarly journals A Challenging Case of Severe Infantile Cholestasis in Alpha-1 Antitrypsin Deficiency

2017 ◽  
Vol 20 (2) ◽  
pp. 176-181 ◽  
Author(s):  
Zahida Khan ◽  
Veena L Venkat ◽  
Kyle A Soltys ◽  
Donna B Stolz ◽  
Sarangarajan Ranganathan
Keyword(s):  
Liver Diseases ◽  
Unusual Case ◽  
Newborn Period ◽  
Pediatric Liver Disease ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Conjugated Hyperbilirubinemia ◽  
Alpha 1 Antitrypsin ◽  
Infantile Cholestasis ◽  
Metabolic Liver Diseases

Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. Alpha-1 antitrypsin deficiency is the most common genetic cause of pediatric liver disease and transplantation, and it must be considered when evaluating cholestatic infants. Here, we present an unusual case of alpha-1 antitrypsin deficiency with severe infantile cholestasis and rapid decompensation in the first 4 months of life, where in-depth but timely diagnosis was crucial for the appropriate intervention to take place.

scholarly journals Targeting the site encoded by SERPINA1*E342K for treating alpha‐1 antitrypsin deficiency‐associated liver diseases

FEBS Letters ◽  
2019 ◽  
Vol 593 (14) ◽  
pp. 1849-1862 ◽  
Author(s):  
Xiaojuan Zhang ◽  
Kien Pham ◽  
Danmeng Li ◽  
Ryan J. Schutte ◽  
Mark Brantly ◽  
...  
Keyword(s):  
Liver Diseases ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

First presentation of portal hypertension complicated by hepatopulmonary syndrome

2021 ◽  
Vol 14 (9) ◽  
pp. e244712
Author(s):  
Nahima Miah ◽  
Aidan Ryan ◽  
Ceyhun Aksel Oztumer ◽  
Mohamed Saleh
Keyword(s):  
Portal Hypertension ◽  
Unusual Case ◽  
Oxygen Demand ◽  
Hepatopulmonary Syndrome ◽  
Antitrypsin Deficiency ◽  
Vascular Dilatation ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Made In

Hepatopulmonary syndrome (HPS) is a serious complication of chronic liver disease, characterised by portal hypertension and arterial hypoxaemia due to intrapulmonary vascular dilatation. We report an unusual case in which a 27-year-old man had a first presentation of portal hypertension and cirrhosis complicated by HPS. This patient presented with progressive dyspnoea on exertion and deterioration in mobility, with a type 1 respiratory failure and increased oxygen demand. A bubble echocardiogram showed a possible right-to-left shunt, CT aortogram displayed evidence of portal hypertension and cirrhosis, and liver biopsy findings were consistent with alpha-1 antitrypsin deficiency. The patient’s increased oxygen demand was subsequently treated with continuous positive airway pressure before he was discharged with 8 L home oxygen. With no current established medical therapy for HPS, the patient was assessed for liver transplantation and a decision was made in favour of this.

An unusual case of alpha-1-antitrypsin deficiency: SZ/Z

2019 ◽  
Vol 64 ◽  
pp. 49-52 ◽  
Author(s):  
M.D. Speevak ◽  
M.L. DeMarco ◽  
N.S. Wiebe ◽  
K.R. Chapman
Keyword(s):  
Unusual Case ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

scholarly journals Neonatal cholestasis, hyperferritinemia, hypoglycemia and deafness: a diagnostic challenge

2019 ◽  
Vol 12 (11) ◽  
pp. e231978
Author(s):  
Elke van Westering-Kroon ◽  
Malou Heijligers ◽  
Matthias Christian Hütten
Keyword(s):  
Hereditary Diseases ◽  
Compound Heterozygous ◽  
Diagnostic Challenge ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Conjugated Hyperbilirubinemia ◽  
Alpha 1 Antitrypsin ◽  
Diagnostic Work ◽  
Bilateral Deafness ◽  
Type 3

Neonatal conjugated hyperbilirubinemia is a diagnostic challenge. A full term, small for gestational age boy presented with cholestasis, hypoglycemia, hyperferritinemia and severe bilateral deafness. Diagnostic work-up revealed two hereditary diseases: alpha-1-antitrypsin deficiency (PI*ZZ genotype) and autosomal recessive deafness type 3 (compound heterozygous MYO15A gene mutation). In addition, we found late hypoglycemia on full enteral feeding which complicated this case. Hyperferritinemia is an uncommon finding in newborn cholestasis without liver failure.

scholarly journals Management of liver disease patients in different clinical situations during COVID-19 pandemic

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Samy Zaky ◽  
Mohamed Alboraie ◽  
Mohamed El Badry ◽  
Mohamed A. Metwally ◽  
Ahmed Abdelaziz ◽  
...  
Keyword(s):  
Liver Disease ◽  
Liver Diseases ◽  
Chronic Liver ◽  
Chronic Liver Diseases ◽  
Healthcare Facilities ◽  
Increased Risk ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Enzyme Elevation

AbstractChronic liver diseases are common worldwide, especially in developing countries. The rapid spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)/(COVID-19) leads to the infection of many patients with underlying chronic liver diseases. As a relatively new disease, management of COVID-19, in the context of chronic liver disease, is mainly based on the experience of the treating physician and the available data. In this review, we summarize the available evidence about the management of liver disease patients, in the context of COVID-19 infection, which can increase the severity of viral hepatitis B. Also, its clearance in HBV patients is delayed. A sixfold increased severity of COVID-19 was reported in obese patients with metabolic associated fatty liver disease (MAFDL). In patients with autoimmune liver disease (AILD), it is not recommended to change their immunosuppressive therapy (as long as they are not infected with COVID-19), in order to avoid a flare of liver disease. However, immunosuppressant drugs should be modified, in the case of infection with COVID-19. To date, no data suggest an increased risk or severity in metabolic liver diseases, such as hemochromatosis, Wilson’s disease, or alpha-1 antitrypsin deficiency. Patients with liver cirrhosis should be carefully managed with minimum exposure to healthcare facilities. Basic investigations for follow-up can be scheduled at wider intervals; if patients need admission, this should be in COVID-19-clean areas. Patients with hepatocellular carcinomas may have a poor prognosis according to preliminary reports from China. The course of COVID-19 in liver transplant recipients on immunosuppression seems to have a benign course, based on few reports in children and adults. The hepatotoxicity of COVID-19 drugs ranges from mild liver enzyme elevation to a flare of underlying liver diseases. Therefore, the decision should be customized. Telemedicine can minimize the exposure of healthcare workers and patients to infection with COVID-19 and decrease the consumption of personal protective equipment.

scholarly journals Capitalizing on the Autophagic Response for Treatment of Liver Disease Caused by Alpha-1-Antitrypsin Deficiency and Other Genetic Diseases

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Andrew S. Chu ◽  
David H. Perlmutter ◽  
Yan Wang
Keyword(s):  
Liver Disease ◽  
Liver Diseases ◽  
Storage Disease ◽  
Genetic Diseases ◽  
Clinical Manifestations ◽  
Definitive Therapy ◽  
Antitrypsin Deficiency ◽  
Exciting Potential ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Alpha-1-antitrypsin deficiency (ATD) is one of the most common genetic causes of liver disease and is a prototype of liver diseases caused by the pathologic accumulation of aggregated mutant alpha-1-antitrypsin Z (ATZ) within liver cells. In the case of ATD-associated liver disease, the resulting “gain-of-function” toxicity can lead to serious clinical manifestations, including cirrhosis and hepatocellular carcinoma. Currently, the only definitive therapy for ATD-associated liver disease is liver transplantation, but recent efforts have demonstrated the exciting potential for novel therapies that target disposal of the mutant protein aggregates by harnessing a cellular homeostasis mechanism called autophagy. In this review, we will summarize research advances on autophagy and genetic liver diseases. We will discuss autophagy enhancer strategies for liver disease due to ATD and another genetic liver disease, inherited hypofibrinogenemia, caused by the proteotoxic effects of a misfolded protein. On the basis of recent evidence that autophagy plays a role in cellular lipid degradation, we also speculate about autophagy enhancer strategies for treatment of hepatic lipid storage diseases such as cholesterol ester storage disease.

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