Wilson disease with hepatic presentation in an eight-month-old boy.
Wilson disease is an autosomal recessive disorder of copper metabolism that can cause fatal neurological and hepatic disease if not diagnosed and treated. The youngest child with normal liver function reported so far is an 8-mo-old Japanese boy with low ceruloplasmin levels, and the youngest child with elevated aminotransferase ever reported so far is a 9-mo-old Korean boy with confirmed by genetic testing. Here we report an 8-mo-old Chinese boy presented with elevated liver enzymes, and low serum ceruloplasmin level. Genetic analysis of ATP7B gene detected two heterozygous disease causing mutations (c.2621C>T/p.A874V and c.3809A>G/p.N1270S), and parental origins were determined. Persistent elevation of serum aminotransferase in this infant was normalized after zinc therapy. To our best knowledge, this is the youngest patient with elevated liver enzymes ever reported worldwide. We hope that this will raise awareness among pediatricians, leading to earlier diagnosis, timely treatment, and better clinical outcome.
Kuerbanjiang Abuduxikuer, Li-Ting Li, Yi-Ling Qiu, Jian-She Wang, Liver Center, Children's Hospital of Fudan University, Shanghai 200032, China.
Kuerbanjiang
K
Abuduxikuer
Kuerbanjiang Abuduxikuer, Li-Ting Li, Yi-Ling Qiu, Jian-She Wang, Liver Center, Children's Hospital of Fudan University, Shanghai 200032, China.
Li-Ting
LT
Li
Kuerbanjiang Abuduxikuer, Li-Ting Li, Yi-Ling Qiu, Jian-She Wang, Liver Center, Children's Hospital of Fudan University, Shanghai 200032, China.
Yi-Ling
YL
Qiu
Kuerbanjiang Abuduxikuer, Li-Ting Li, Yi-Ling Qiu, Jian-She Wang, Liver Center, Children's Hospital of Fudan University, Shanghai 200032, China.
Neng-Li
NL
Wang
Kuerbanjiang Abuduxikuer, Li-Ting Li, Yi-Ling Qiu, Jian-She Wang, Liver Center, Children's Hospital of Fudan University, Shanghai 200032, China.
Jian-She
JS
Wang
D000251:Adenosine Triphosphatases / Q000235:genetics; D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D015415:Biomarkers / Q000097:blood; D027682:Cation Transport Proteins / Q000235:genetics; D002570:Ceruloplasmin / Q000032:analysis; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D005942:Gluconates / Q000627:therapeutic use; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008111:Liver Function Tests; D008297:Male; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D016896:Treatment Outcome
D015415:Biomarkers; D027682:Cation Transport Proteins; D005942:Gluconates; D002570:Ceruloplasmin; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases; C030691:gluconic acid
ATP7B; Copper; Hepatic presentation; Infant; Wilson disease; Zinc