Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests

Guillaud, Olivier; Dumortier, Jérôme; Couchonnal-Bedoya, Eduardo; Ruiz, Mathias

doi:10.3390/diagnostics13020256

Cited by 2 publications

(3 citation statements)

References 119 publications

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“…In about 10% of Pi*ZZ children AATD presents as a neonatal cholestasis with jaundice, pale stools and dark urine in the first weeks of life, together with high direct bilirubin, transaminases, gamma-glutamyl transferase (GGT) and serum bile acids [13]. This condition should spur the measurement of the AAT level and, if below 1.1 g/L, phenotyping and/or genotyping needs to be performed [21]. Conversely, an AAT level above 1.1 g/L makes the diagnosis of AATD as a cause of the neonatal cholestasis highly unlikely.…”

Section: Accepted Manuscriptmentioning

confidence: 99%

“…13 This condition should spur the measurement of the AAT level and, if below 1.1 g/L, phenotyping and/or genotyping needs to be performed. 21 Conversely, an AAT level above 1.1 g/L makes the diagnosis of AATD as a cause of the neonatal cholestasis highly unlikely. Other causes of neonatal cholestasis must be taken into consideration, such as biliary atresia, Alagille syndrome, infections, cystic fibrosis, or other genetic liver diseases.…”

Section: Lay Summarymentioning

confidence: 99%

“…Although the last tests are not validated in most childhood liver diseases, some studies have shown feasibility and efficiency. 21 32 Patients with worsening fibrosis or cirrhosis should be referred to a tertiary pediatric hepatology center to manage portal hypertension and to timely list them for liver transplantation. The last procedure currently constitutes the only available treatment of life-threatening AATD liver disease and several reports indicate that it is associated with a good prognosis.…”

Section: Liver Disease In Childrenmentioning

confidence: 99%

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Pediatric and Adult Liver Disease in Alpha-1 Antitrypsin Deficiency

Ruiz

Lacaille²,

Schrader

et al. 2023

Semin Liver Dis

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Alpha1-antitrypsin (AAT) deficiency (AATD) arises due to inherited variants in SERPINA1, the AAT gene that impair the production or secretion of this hepatocellular protein and lead to a gain-of-function liver proteotoxicity. Homozygous Pi*Z pathogenic variant (Pi*ZZ genotype) is the leading cause of severe AATD. It manifests in 2-10% of carriers as neonatal cholestasis and 20-35% of adults as significant liver fibrosis. Both children and adults may develop an end-stage liver disease requiring liver transplantation. Heterozygous Pi*Z pathogenic variant (Pi*MZ genotype) constitutes an established disease modifier. Our review summarizes the natural history and management of subjects with both pediatric and adult AATD-associated liver disease. Current findings from a phase 2 clinical trial indicate that RNA silencing may constitute a viable therapeutic approach for adult AATD. In conclusion, AATD is an increasingly appreciated pediatric and adult liver disorder that is becoming an attractive target for modern pharmacologic strategies.

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Section: Accepted Manuscriptmentioning

confidence: 99%

Section: Lay Summarymentioning

confidence: 99%

Section: Liver Disease In Childrenmentioning

confidence: 99%

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Pediatric and Adult Liver Disease in Alpha-1 Antitrypsin Deficiency

Ruiz

Lacaille²,

Schrader

et al. 2023

Semin Liver Dis

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Recurrent spontaneous pneumothorax in a patient with wilson disease who is on long-term D-penicillamine: Case report

MDN,

LMH,

et al. 2024

JLPRR

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Introduction: Recurrent spontaneous pneumothoraces (PSP) in association with liver disease is well known to occur with alpha 1 antitrypsin deficiency (AATD). Wilson disease (WD) association with recurrent PSP is not a known entity. Case presentation: A 42-year-old nonsmoker man with a history of recurrent PSP was admitted with a large right pneumothorax. Following intercostal chest drain (ICD) patient’s breathing improved and the lung expanded. Despite that, he continued to have a small residual pneumothorax (<2cm). Twelve years ago, he was diagnosed with WD. The patient was on treatment with D-penicillamine. After 3 years of the diagnosis of WD, the patient developed left-sided recurrent PSPs where he ended up with a left-pleurectomy in 2015. For the current event, initially expectant management was done for residual pneumothorax. All the possible causes for PSP were excluded. On follow-up, he continued to be symptomatic. A thoracic surgical referral was arranged for Video-Assisted Thoracoscopic Surgery (VATS) and redo-pleurectomy. The safety of future treatment with D-penicillamine is not concluded as there is no convincing evidence to prove it as a culprit agent for PSPs. Multidisciplinary discussion was arranged and consideration of treatment with alternative copper chelating therapy was emphasized. Conclusion: Though rare, it is important to observe for occurrence of PSP in WD patients. This case report will be eye-opening for the association of lung disease and WD and related treatment.

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Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests

Cited by 2 publications

References 119 publications

Pediatric and Adult Liver Disease in Alpha-1 Antitrypsin Deficiency

Pediatric and Adult Liver Disease in Alpha-1 Antitrypsin Deficiency

Recurrent spontaneous pneumothorax in a patient with wilson disease who is on long-term D-penicillamine: Case report

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