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A 56-year-old man, diagnosed with emphysema, presents with a one-month history of jaundice and ascites. Your registrar suspects that this patient may have liver disease secondary to a₁-antitrypsin deficiency. Select the most likely mode of inheritance from the list below:
ব্যাখ্যা
a₁-antitrypsin deficiency is an autosomal recessive disorder (C), which results from single amino acid substitutions at positions 264 and 342 on chromosome 14. ₁-antitrypsin is a serine protease, synthesized in the liver, required in controlling inflammatory cascades. The lack of this serine protease results in emphysema (75 per cent), chronic liver disease and hepatocellular carcinoma, asthma, pancreatitis, gallstones, Wegener's granulomatosis.
Patients with liver disease secondary to d₁-antitrypsin deficiency usually present with dyspnoea (from emphysema), liver cirrhosis, cholestatic jaundice. Investigations include: serum a₁-antitrypsin levels, liver biopsy, genetic phenotyping and DNA analysis at prenatal diagnosis. Management involves quitting smoking, augmentation therapy with α₁-antitrypsin pooled from human plasma and liver transplantation is the treatment of choice in decompensated cirrhosis.
Patients with liver disease secondary to d₁-antitrypsin deficiency usually present with dyspnoea (from emphysema), liver cirrhosis, cholestatic jaundice. Investigations include: serum a₁-antitrypsin levels, liver biopsy, genetic phenotyping and DNA analysis at prenatal diagnosis. Management involves quitting smoking, augmentation therapy with α₁-antitrypsin pooled from human plasma and liver transplantation is the treatment of choice in decompensated cirrhosis.