Alpha-1-Antitrypsin Deficiency in Children—Unmet Needs Concerning the Liver Manifestation
Abstract
:1. Introduction
2. Materials and Methods
Statistical Analysis
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Group of Liver Disease | Criteria |
---|---|
1: Liver transplanted * | Liver transplantation due to AATD |
2: Severe liver disease * |
|
3: Moderate liver disease * |
|
4: mild or no liver disease * |
|
n = 45 | |
---|---|
a. Basic Information | |
Gender, n = 45 (%) | |
- Girl | 21 (47) |
- Boy | 24 (53) |
Genotypes, n = 45 (%) | |
- Pi*ZZ | 39 (87) |
- Pi*SZ | 5 (11) |
- Other compound heterozygosity with Z | 1 (2) |
Median (IQR) age at evaluation, y, n = 45 | 9.1 (5.2, 13.9) |
b. Diagnosis | |
Median (IQR) AAT serum level, g/L, n = 45 | 0.3 (0.3, 0.4) |
Median (IQR) age at diagnosis, m, n = 44 | 13.0 (2.0, 40.3) |
Age category at diagnosis, n = 44 (%) | |
- ≤1 y | 20 (45) |
- >1 y | 24 (53) |
- Missing data | 1 (2) |
Mode of diagnosis, n = 45 (%) | |
- Familial screening | 10 (22) |
- Icterus prolongatus/neonatal cholestasis a | 11 (25) |
- liver abnormalities (elevation of transaminases/coagulation disorder) | 19 (42) |
- Others (ex., Growth abnormalities) and unknown | 5 (11) |
The severity of liver disease b, n = 45 (%) | |
- Liver transplanted | 2 (4) |
- Severe liver disease | 4 (9) |
- Moderate liver disease | 9 (20) |
- Mild or no liver disease | 30 (67) |
Median (range) age at biopsy, y, n = 10 | 2.25 (0.1–16.7) |
Biopsy results, n = 9 | |
- Liver cirrhosis | 3 (33) |
- Liver fibrosis | 4 (44) |
- Other liver pathology | 2 (22) |
- No liver pathology | 0 |
- Missing data | 1 (11) |
c. Medication | |
UDCA, n = 45 (%) | 31 (69) |
No UDCA, n = 45 (%) | 14 (31) |
Median (IQR) age (m) at therapy start with UDCA, n = 31 | 18.5 (1.8–39.5) |
d. Anamnesis, Comorbidities | |
Icterus prolongatus/neonatal cholestasis a, n = 38 (%) | 17 (45) |
Disease of atopic type, n = 38 (%) | 18 (47) |
- Bronchial asthma, n = 34 (%) | 3 (9) |
- Atopic dermatitis, n = 36 (%) | 8 (22) |
- Allergy to pollen/grasses, n = 37 (%) | 16 (43) |
Families within cohort | 37 |
Sibling history, n = 38 (%) | |
- Pi*ZZ or SZ sibling(s) | 15 (40) |
● Pi*ZZ sibling triplet | 1 |
● Pi*ZZ sibling doublet | 4 |
● Pi*ZZ + Pi*SZ sibling doublet | 2 |
- No Pi*ZZ sibling(s) | 16 (42) |
- No sibling | 7 (18) |
- Missing data | 7 |
SGA (small for gestational age) c, n = 35 (%) | 9 (26) |
LTx b (n = 2) | Severe b (n = 4) | Moderate b (n = 9) | Mild or None b (n = 30) | |
---|---|---|---|---|
a. Basic Information | ||||
Gender | ||||
- Girl/Boy, n | 1/1 | 2/2 | 5/4 | 13/17 |
Genotypes, n (%) | ||||
- Pi*ZZ | 2 (100) | 4 (100) | 8 (89) | 25 (84) |
- Pi*SZ | 0 | 0 | 1 (11) | 4 (13) |
- Other compound heterozygosity with Z | 0 | 0 | 0 | 1 (3) |
Median age at evaluation, y | 4.6 | 13.1 | 2.9 | 9.5 |
b. Diagnosis | ||||
Median AAT serum level, g/L | 0.4 | 0.4 | 0.3 | 0.3 |
Median age at diagnosis, m | 1.0 | 15.9 | 1.5 | 18.0 |
- Missing data, n | 0 | 0 | 1 | 0 |
Age category at diagnosis, n (%) | ||||
- ≤1 y/>1 y, n | 2/0 | 2/0 | 5/3 | 11/19 |
- Missing data | 0 | 0 | 1 | 0 |
Mode of diagnosis, n (%) | ||||
- Familial screening | 0 | 0 | 2 (22) | 8 (27) |
- Icterus prolongatus/neonatal cholestasis a | 2 (100) | 1 (25) | 3 (34) | 5 (17) |
- Liver abnormalities (elevation of transaminases/coagulation disorder) | 0 | 3 (75) | 2 (22) | 14 (46) |
- Others (ex., Growth abnormalities) and unknown | 0 | 0 | 2 (22) | 3 (10) |
c. Medication | ||||
UDCA/no UDCA, n | 2/0 | 4/0 | 7/2 | 18/12 |
Median age at therapy start with UDCA, m | 1.4 | 20.8 | 1.8 | 26.4 |
- Missing data | 0 | 0 | 2 | 12 |
d. Anamnesis, Comorbidities | ||||
Breastfeeding | ||||
Yes/No, n | 1/1 | 3/1 | 5/1 | 20/3 |
Missing data | 0 | 0 | 3 | 7 |
Icterus prolongatus/neonatal cholestasis b | ||||
Yes/No, n | 2/0 | 3/1 | 5/2 | 7/18 |
Missing data | 0 | 0 | 2 | 5 |
Disease of atopic type, (%) | ||||
Yes/No, n | 1/1 | 1/3 | 3/3 | 13/13 |
Missing data | 0 | 0 | 3 | 4 |
Subgroups of atopic type | ||||
Bronchial asthma | ||||
Yes/No, n | 0/2 | 0/4 | 0/5 | 3/20 |
Missing data | 0 | 0 | 4 | 7 |
Atopic dermatitis | ||||
Yes/No, n | 0/2 | 1/3 | 2/3 | 5/20 |
Missing data | 0 | 0 | 4 | 5 |
Allergy to pollen/grasses | ||||
Yes/No, n | 1/1 | 0/4 | 3/3 | 12/13 |
Missing data | 0 | 0 | 3 | 5 |
SGA (small for gestational age) c, n (%) | ||||
Yes/No, n | 1/0 | 1/3 | 1/6 | 6/17 |
Missing data | 1 | 0 | 2 | 7 |
Diagnostics | LTx a (n = 2) | Severe a (n = 4) | Moderate a (n = 9) | Mild or None a (n = 30) |
---|---|---|---|---|
Maximum ALT, U/L | 328 (265–391) | 152 (82–209) | 115 (103–142) | 95 (65–143) |
Maximum GGT, U/L | 1272 (1086–1458) | 145 (84–539) | 45 (38–503) | 35 (23–71) |
Maximum total bilirubin, mg/dL | 6.7 (4.1–9.3) | 0.7 (0.6–2.2) | 2.8 (1.0–6.9) | 0.5 (0.4–0.8) |
Minimum platelets count, G/l | 67 (53–81) | 122 (89–182) | 376 (275–387) | 243 (205–293) |
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Lemke, J.; Weigert, A.; Bagci, S.; Born, M.; Ganschow, R.; Katzer, D. Alpha-1-Antitrypsin Deficiency in Children—Unmet Needs Concerning the Liver Manifestation. Children 2024, 11, 694. https://doi.org/10.3390/children11060694
Lemke J, Weigert A, Bagci S, Born M, Ganschow R, Katzer D. Alpha-1-Antitrypsin Deficiency in Children—Unmet Needs Concerning the Liver Manifestation. Children. 2024; 11(6):694. https://doi.org/10.3390/children11060694
Chicago/Turabian StyleLemke, Joelle, Alexander Weigert, Soyhan Bagci, Mark Born, Rainer Ganschow, and David Katzer. 2024. "Alpha-1-Antitrypsin Deficiency in Children—Unmet Needs Concerning the Liver Manifestation" Children 11, no. 6: 694. https://doi.org/10.3390/children11060694
APA StyleLemke, J., Weigert, A., Bagci, S., Born, M., Ganschow, R., & Katzer, D. (2024). Alpha-1-Antitrypsin Deficiency in Children—Unmet Needs Concerning the Liver Manifestation. Children, 11(6), 694. https://doi.org/10.3390/children11060694