Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/36070551http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/36070551http://www.w3.org/2000/01/rdf-schema#comment"

Objectives

The aim of this cross-sectional study was to assess the state of disease at the time of diagnosis in Danish children with α 1 -antitrypsin deficiency as Denmark has a high prevalence of ZZ-homozygosity.

Methods

Children either heterozygous, compound heterozygous, or homozygous for Z- and S-variants in the SERPINA1 -gene were included. Clinical characteristics, SERPINA1 -genotype, and blood serum (S) concentrations were recorded concurrently with genetic testing. Serum liver marker concentrations were compared using T tests and Wilcoxon-Mann-Whitney tests. Generalized estimating equation (GEE) linear regression models, both univariable and multivariable adjusted for age and sex, were applied to identify correlations with serum α 1 -antitrypsin (S-AAT). The relationship between S-AAT concentration and genotype was assessed using logistic regression with GEE.

Results

The study included 183 of 225 children genetically tested for alpha-1-antitrypsin deficiency (AATD). Of these, 36.6% were homozygous for the Z-variant. Of the heterozygotes, 89.7% had a ZM genotype and the remaining had either an MS genotype or were compound heterozygous. At diagnosis, ZZ-homozygous children had higher serum concentrations of liver enzymes and conjugated bilirubin, but lower concentrations of S-AAT compared with heterozygotes. Serum concentrations of conjugated bilirubin and liver enzymes were negatively associated with S-AAT. Children under 6 months of age had higher total S-bilirubin concentrations than children over 6 months of age.

Conclusions

A low S-AAT concentration is a strong indicator of homozygosity, and homozygous children have higher enzymatic and cholestatic parameters compared with heterozygous children at diagnosis. This underlines the importance of measuring the S-AAT concentration in children with prolonged neonatal jaundice."xsd:string
http://purl.uniprot.org/citations/36070551http://purl.org/dc/terms/identifier"doi:10.1097/mpg.0000000000003604"xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/author"Duno M."xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/author"Nielsen R.G."xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/author"Brix Christensen V."xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/author"Helt T.W."xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/author"Johansen K.B."xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/author"Nyrann S."xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/author"Winther C.L."xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/date"2022"xsd:gYear
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/name"J Pediatr Gastroenterol Nutr"xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/pages"629-634"xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/title"Disease Status at Diagnosis in Danish Children with alpha 1 -antitrypsin Deficiency."xsd:string
http://purl.uniprot.org/citations/36070551http://purl.uniprot.org/core/volume"75"xsd:string
http://purl.uniprot.org/citations/36070551http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/36070551
http://purl.uniprot.org/citations/36070551http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/36070551
http://purl.uniprot.org/uniprot/#_A0A024R6N5-mappedCitation-36070551http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/36070551
http://purl.uniprot.org/uniprot/#_A0A0S2Z465-mappedCitation-36070551http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/36070551
http://purl.uniprot.org/uniprot/#_A0A384MDQ7-mappedCitation-36070551http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/36070551
http://purl.uniprot.org/uniprot/#_A6YP93-mappedCitation-36070551http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/36070551
http://purl.uniprot.org/uniprot/#_A0A1L7B5J3-mappedCitation-36070551http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/36070551
http://purl.uniprot.org/uniprot/#_C1KH65-mappedCitation-36070551http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/36070551
http://purl.uniprot.org/uniprot/#_A7L8C5-mappedCitation-36070551http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/36070551
http://purl.uniprot.org/uniprot/#_A7L8C6-mappedCitation-36070551http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/36070551
▶