Source: Annual Congress 2004 - Emphysema and oxygen therapy

Abstract

A six-month infant with prolonged jaundice in neonatal period, hepatosplenomegaly and clinical and biochemical characteristics of cholestatic hepatitis was accepted in our hospital. From laboratory investigations an increased serum levels of ALAT, ASAT, ALP and GGTP were found. During the ethiological searching for organomegaly and jaundice an elevated anti - CMV antibodies were detected. In futher observation pulmonary symptoms occur and more detailed investigations were provided. They found decreased levels of alpha 1- antitrypsin [0.31 g/l] in serum. The PiZZ variant was genotyped. The treatment of the patient included hepatoprotective medication, antibiotics, bronchodilatators, vitamins.
We report this case in order to point that this genetic disease is not so rare and that the combination of hepatic failure and pulmonary involvment must lead to alpha 1- antitrypsin deficiency in differential diagnosis.

Rating:

Share or cite this content

Citations should be made in the following way:
R. M. Markova (Sofia, Bulgaria). A case report of alpha 1-antitrypsin deficiency in a six-month infant. Eur Respir J 2004; 24: Suppl. 48, 1511

Member's Comments

No comment yet.

Related content which might interest you: Phase I safety investigation of an aerosolized, recombinant alpha 1-antitrypsin in subjects with alpha 1-antitrypsin deficiency Source: Eur Respir J 2004; 24: Suppl. 48, 228s Year: 2004 COVID-19 infection in Severe Alpha 1-antitrypsin deficiency: looking for a rationale Source: Virtual Congress 2021 – Burden and epidemiology of COVID-19 Year: 2021 Long-term experience in the treatment of alpha 1-antitrypsin deficiency: 25 years of augmentation therapy Source: Eur Respir Rev 2015; 24: 46-51 Year: 2015 Diagnosing alpha 1-antitrypsin deficiency: how to improve the current algorithm Source: Eur Respir Rev 2015; 24: 52-57 Year: 2015 Alpha 1-antitrypsin deficiency Source: Breathe 2008; 4: 377-380 Year: 2008 Survival in individuals with severe alpha 1-antitrypsin deficiency (PiZZ) in comparison to a general population with known smoking habits Source: Eur Respir J, 50 (3) 1700198; 10.1183/13993003.00198-2017 Year: 2017 Reduction in incidence of exacerbations in patients with alpha 1 antitrypsin deficiency (A1ATD) treated with concentrates of alpha 1 antitrypsin (A1AT): REXA study Source: Annual Congress 2011 - Biomarkers and exacerbations of asthma and COPD Year: 2011 Clinical and functional characteristics of Italian and Spanish patients with alpha 1-antitrypsin deficiency Source: Annual Congress 2012 - COPD: epidemiology and varia Year: 2012 Trends in diagnosis and clinical presentation of alpha-1 antitrypsin deficiency within an Irish population Source: Annual Congress 2012 - Inflammation in airway diseases: diagnosis and management Year: 2012 Clinical features of alpha one antitrypsin deficiency in COPD Source: Annual Congress 2012 - Inflammation in airway diseases: diagnosis and management Year: 2012 Alpha-1 antitrypsin deficiency and spontaneous pneumothorax: just a coincidence? Source: International Congress 2017 – Rare and common genetic variants of common and rare airway diseases Year: 2017 Targeted screening programmes in COPD: how to identify individuals with alpha 1-antitrypsin deficiency Source: Eur Respir Rev 2015; 24: 40-45 Year: 2015 Alpha 1 - antitrypsin deficiency: diagnosis and treatment Source: Virtual Congress 2021 – Alpha 1 - antitrypsin deficiency: diagnosis and treatment Year: 2021 Has cardiopulmonary exercise testing a role in detecting early emphysema in alpha 1-antitrypsin deficiency? Source: Eur Respir J 2001; 18: Suppl. 33, 84s Year: 2001 Does smoking impair the quality of life of 34 year olds with alpha-1 antitrypsin deficiency? Source: Annual Congress 2011 - Smoking-related disorders and smoking prevention Year: 2011 Impact of alpha 1-antitrypsin deficiency and prior augmentation therapy on patients' survival after lung transplantation Source: Eur Respir J, 50 (3) 1700962; 10.1183/13993003.00962-2017 Year: 2017 What makes Alpha1-antitrypsin deficiency patients exacerbate: a 5-year cohort Source: Virtual Congress 2021 – Biomarkers to phenotype COPD: prediction of exacerbations Year: 2021 Diagnosing alpha-1 antitrypsin deficiency in Romania - first 1000 cases tested Source: Virtual Congress 2020 – Asthma and COPD: How genetic and environment influences its developement? Year: 2020 Alpha-1 antitrypsin deficiency and pulmonary morbidity in patients with primary immunodeficiency disease: A single center experience Source: International Congress 2018 – Role of IgE and interleukin (IL)-5 in Th2-cell signatures Year: 2018 Alpha-1-antitrypsin deficiency patients (AATD): two-year follow-up Source: Eur Respir J 2002; 20: Suppl. 38, 260s Year: 2002