Medicine · 2025
A rare presentation of Wilson disease with normal levels of serum ceruloplasmin and copper and MODY: A case report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Han Meihong, Yang Zhen
Аннотация
RATIONALE: Wilson disease (WD) is an autosomal recessive disorder in which mutations in ATP7B lead to excessive copper deposition in the liver, brain, eyes, kidneys, and other organs. Patients with WD can present with hepatic dysfunction, neurological symptoms, rare hemolytic anemia, and renal tubular acidosis.
PATIENT CONCERNS: A 27-year-old female patient with liver cirrhosis and maturity-onset diabetes of the young was found to have normal serum ceruloplasmin (25.9, 20-60 mg/dL) and copper levels (17.81, 12.6-23.6 μmol/L).
DIAGNOSES: Liver biopsy revealed severe lobular hepatitis (multiple lobular/large necroses), early cirrhosis with a small amount of copper deposits, hepatocyte lipidosis, balloon-like changes, Mallory bodies, and glycogenated hepatocyte nuclei. Genetic analysis of ATP7B exon found 2 variants (c.2333G>T, p. Arg778Leu) in exon 8 and (c.3209C>G, p. Pro1070Arg) in exon 14. Based on the available results, the Leipzig score was 7 and the diagnosis of WD can be confirmed. A late Kayser-Fleischer corneal rings test came back positive.
INTERVENTIONS: The patient's clinical management included d-penicillamine and insulin.
OUTCOMES: At approximately 6 months of follow-up, the patient's liver function was well controlled and the cirrhosis did not progress or have decompensated events.
LESSONS: Although WD is treatable, its early detection is challenging. Genetic testing and liver pathology are sometimes necessary for the diagnosis of WD. This case underscores the consideration of WD in the differential diagnosis of patients with liver cirrhosis. Normal ceruloplasmin levels do not rule out WD.
PATIENT CONCERNS: A 27-year-old female patient with liver cirrhosis and maturity-onset diabetes of the young was found to have normal serum ceruloplasmin (25.9, 20-60 mg/dL) and copper levels (17.81, 12.6-23.6 μmol/L).
DIAGNOSES: Liver biopsy revealed severe lobular hepatitis (multiple lobular/large necroses), early cirrhosis with a small amount of copper deposits, hepatocyte lipidosis, balloon-like changes, Mallory bodies, and glycogenated hepatocyte nuclei. Genetic analysis of ATP7B exon found 2 variants (c.2333G>T, p. Arg778Leu) in exon 8 and (c.3209C>G, p. Pro1070Arg) in exon 14. Based on the available results, the Leipzig score was 7 and the diagnosis of WD can be confirmed. A late Kayser-Fleischer corneal rings test came back positive.
INTERVENTIONS: The patient's clinical management included d-penicillamine and insulin.
OUTCOMES: At approximately 6 months of follow-up, the patient's liver function was well controlled and the cirrhosis did not progress or have decompensated events.
LESSONS: Although WD is treatable, its early detection is challenging. Genetic testing and liver pathology are sometimes necessary for the diagnosis of WD. This case underscores the consideration of WD in the differential diagnosis of patients with liver cirrhosis. Normal ceruloplasmin levels do not rule out WD.