CLINICAL, LABORATORIAL AND EVOLUTIONARY ASPECTS OF PEDIATRIC PATIENTS WITH LIVER DISEASE DUE TO ALPHA 1-ANTITRYPSIN DEFICIENCY
ABSTRACT Background: Alpha 1-antitrypsin deficiency (AATD) is a hereditary codominant autosomal disease. This liver disease ranges from asymptomatic cases to terminal illness, which makes early recognition and diagnosis challenging. It is the main cause of pediatric liver transplantation after bili...
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| Format: | Article |
| Language: | English |
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Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE)
2023-11-01
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| Series: | Arquivos de Gastroenterologia |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032023000400438&lng=en&tlng=en |
| _version_ | 1797449375924879360 |
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| author | Mariana Pena COSTA Alexandre Rodrigues FERREIRA Adriana Teixeira RODRIGUES Eleonora Druve Tavares FAGUNDES Thais Costa Nascentes QUEIROZ |
| author_facet | Mariana Pena COSTA Alexandre Rodrigues FERREIRA Adriana Teixeira RODRIGUES Eleonora Druve Tavares FAGUNDES Thais Costa Nascentes QUEIROZ |
| author_sort | Mariana Pena COSTA |
| collection | DOAJ |
| description | ABSTRACT Background: Alpha 1-antitrypsin deficiency (AATD) is a hereditary codominant autosomal disease. This liver disease ranges from asymptomatic cases to terminal illness, which makes early recognition and diagnosis challenging. It is the main cause of pediatric liver transplantation after biliary atresia. Objective: To describe the clinical characteristics, as well as those of histologic and laboratory tests, phenotypic and/or genetic evaluation and evolution of a cohort of pediatric patients with AATD. Methods: This is a retrospective observational study of 39 patients with confirmed or probable AATD (without phenotyping or genotyping, but with suggestive clinical features, low serum alpha 1-antitrypsin (AAT) level and liver biopsy with PAS granules, resistant diastasis). Clinical, laboratory and histological variables, presence of portal hypertension (PH) and survival with native liver have been analyzed. Results: A total of 66.7% of 39 patients were male (26/39). The initial manifestation was cholestatic jaundice in 79.5% (31/39). Liver transplantation was performed in 28.2% (11/39) of patients. Diagnosis occurred at an average of 3.1 years old and liver transplantation at 4.1 years of age. 89.2% (25/28) of the patients with confirmed AATD were PI*ZZ or ZZ. The average AAT value on admission for PI*ZZ or ZZ patients was 41.6 mg/dL. All transplanted patients with phenotyping or genotyping were PI*ZZ (or ZZ). Those who were jaundiced on admission were earlier referred to the specialized service and had higher levels of GGT and platelets on admission. There was no significant difference in the survival curve when comparing cholestatic jaundiced to non-cholestatic jaundiced patients on admission. Comparing patients who did or did not progress to PH, higher levels of AST and APRI score at diagnosis (P=0.011 and P=0.026, respectively) were observed and in the survival curves patients with PH showed impairment, with 20.2% survival with native liver in 15 years. Conclusion: Jaundice is an important clinical sign that motivates referral to a specialist, but it does not seem to compromise survival with native liver. Patients progressing to PH had higher AST, APRi score on admission and significantly impaired survival with native liver. It is important to pay attention to these signs in the follow-up of patients with AATD. |
| first_indexed | 2024-03-09T14:24:20Z |
| format | Article |
| id | doaj.art-c6720c65449c4120b396748ca199983e |
| institution | Directory Open Access Journal |
| issn | 1678-4219 |
| language | English |
| last_indexed | 2024-03-09T14:24:20Z |
| publishDate | 2023-11-01 |
| publisher | Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE) |
| record_format | Article |
| series | Arquivos de Gastroenterologia |
| spelling | doaj.art-c6720c65449c4120b396748ca199983e2023-11-28T07:49:09ZengInstituto Brasileiro de Estudos e Pesquisas de Gastroenterologia (IBEPEGE)Arquivos de Gastroenterologia1678-42192023-11-0160443844910.1590/s0004-2803.230402023-71CLINICAL, LABORATORIAL AND EVOLUTIONARY ASPECTS OF PEDIATRIC PATIENTS WITH LIVER DISEASE DUE TO ALPHA 1-ANTITRYPSIN DEFICIENCYMariana Pena COSTAhttps://orcid.org/0009-0003-1535-9120Alexandre Rodrigues FERREIRAhttps://orcid.org/0000-0001-6749-8980Adriana Teixeira RODRIGUEShttps://orcid.org/0000-0002-1735-5073Eleonora Druve Tavares FAGUNDEShttps://orcid.org/0000-0002-5671-9570Thais Costa Nascentes QUEIROZhttps://orcid.org/0000-0001-9917-9749ABSTRACT Background: Alpha 1-antitrypsin deficiency (AATD) is a hereditary codominant autosomal disease. This liver disease ranges from asymptomatic cases to terminal illness, which makes early recognition and diagnosis challenging. It is the main cause of pediatric liver transplantation after biliary atresia. Objective: To describe the clinical characteristics, as well as those of histologic and laboratory tests, phenotypic and/or genetic evaluation and evolution of a cohort of pediatric patients with AATD. Methods: This is a retrospective observational study of 39 patients with confirmed or probable AATD (without phenotyping or genotyping, but with suggestive clinical features, low serum alpha 1-antitrypsin (AAT) level and liver biopsy with PAS granules, resistant diastasis). Clinical, laboratory and histological variables, presence of portal hypertension (PH) and survival with native liver have been analyzed. Results: A total of 66.7% of 39 patients were male (26/39). The initial manifestation was cholestatic jaundice in 79.5% (31/39). Liver transplantation was performed in 28.2% (11/39) of patients. Diagnosis occurred at an average of 3.1 years old and liver transplantation at 4.1 years of age. 89.2% (25/28) of the patients with confirmed AATD were PI*ZZ or ZZ. The average AAT value on admission for PI*ZZ or ZZ patients was 41.6 mg/dL. All transplanted patients with phenotyping or genotyping were PI*ZZ (or ZZ). Those who were jaundiced on admission were earlier referred to the specialized service and had higher levels of GGT and platelets on admission. There was no significant difference in the survival curve when comparing cholestatic jaundiced to non-cholestatic jaundiced patients on admission. Comparing patients who did or did not progress to PH, higher levels of AST and APRI score at diagnosis (P=0.011 and P=0.026, respectively) were observed and in the survival curves patients with PH showed impairment, with 20.2% survival with native liver in 15 years. Conclusion: Jaundice is an important clinical sign that motivates referral to a specialist, but it does not seem to compromise survival with native liver. Patients progressing to PH had higher AST, APRi score on admission and significantly impaired survival with native liver. It is important to pay attention to these signs in the follow-up of patients with AATD.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032023000400438&lng=en&tlng=enAlpha 1-antitrypsin deficiencycholestasisliver cirrhosisportalhypertension |
| spellingShingle | Mariana Pena COSTA Alexandre Rodrigues FERREIRA Adriana Teixeira RODRIGUES Eleonora Druve Tavares FAGUNDES Thais Costa Nascentes QUEIROZ CLINICAL, LABORATORIAL AND EVOLUTIONARY ASPECTS OF PEDIATRIC PATIENTS WITH LIVER DISEASE DUE TO ALPHA 1-ANTITRYPSIN DEFICIENCY Arquivos de Gastroenterologia Alpha 1-antitrypsin deficiency cholestasis liver cirrhosis portalhypertension |
| title | CLINICAL, LABORATORIAL AND EVOLUTIONARY ASPECTS OF PEDIATRIC PATIENTS WITH LIVER DISEASE DUE TO ALPHA 1-ANTITRYPSIN DEFICIENCY |
| title_full | CLINICAL, LABORATORIAL AND EVOLUTIONARY ASPECTS OF PEDIATRIC PATIENTS WITH LIVER DISEASE DUE TO ALPHA 1-ANTITRYPSIN DEFICIENCY |
| title_fullStr | CLINICAL, LABORATORIAL AND EVOLUTIONARY ASPECTS OF PEDIATRIC PATIENTS WITH LIVER DISEASE DUE TO ALPHA 1-ANTITRYPSIN DEFICIENCY |
| title_full_unstemmed | CLINICAL, LABORATORIAL AND EVOLUTIONARY ASPECTS OF PEDIATRIC PATIENTS WITH LIVER DISEASE DUE TO ALPHA 1-ANTITRYPSIN DEFICIENCY |
| title_short | CLINICAL, LABORATORIAL AND EVOLUTIONARY ASPECTS OF PEDIATRIC PATIENTS WITH LIVER DISEASE DUE TO ALPHA 1-ANTITRYPSIN DEFICIENCY |
| title_sort | clinical laboratorial and evolutionary aspects of pediatric patients with liver disease due to alpha 1 antitrypsin deficiency |
| topic | Alpha 1-antitrypsin deficiency cholestasis liver cirrhosis portalhypertension |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032023000400438&lng=en&tlng=en |
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