Which condition is described as an autosomal recessive disorder with thick pancreatic mucus and exocrine insufficiency?

Which condition is described as an autosomal recessive disorder with thick pancreatic mucus and exocrine insufficiency?

• A. Cystic Fibrosis
• B. Shwachman-Diamond syndrome
• C. Pancreatic divisum
• D. Hereditary pancreatitis

Answer: (A)

Thick pancreatic mucus with exocrine insufficiency is a hallmark of cystic fibrosis. This autosomal recessive disorder results from mutations in the CFTR gene, which disrupts chloride transport and leads to unusually thick secretions in exocrine glands. In the pancreas, these viscous secretions obstruct the ducts, causing destruction of acinar tissue and resulting in exocrine pancreatic insufficiency and malabsorption. Shwachman-Diamond syndrome can also involve pancreatic insufficiency, but it is primarily defined by bone marrow failure and skeletal abnormalities rather than thick mucus production. Pancreatic divisum is a ductal anomaly with usually no systemic mucus problems, and hereditary pancreatitis is typically autosomal dominant and relates to recurrent pancreatitis rather than exocrine pancreatic insufficiency due to thick secretions. So the described combination is most consistent with cystic fibrosis.

Thick pancreatic mucus with exocrine insufficiency is a hallmark of cystic fibrosis. This autosomal recessive disorder results from mutations in the CFTR gene, which disrupts chloride transport and leads to unusually thick secretions in exocrine glands. In the pancreas, these viscous secretions obstruct the ducts, causing destruction of acinar tissue and resulting in exocrine pancreatic insufficiency and malabsorption.

Shwachman-Diamond syndrome can also involve pancreatic insufficiency, but it is primarily defined by bone marrow failure and skeletal abnormalities rather than thick mucus production. Pancreatic divisum is a ductal anomaly with usually no systemic mucus problems, and hereditary pancreatitis is typically autosomal dominant and relates to recurrent pancreatitis rather than exocrine pancreatic insufficiency due to thick secretions.

So the described combination is most consistent with cystic fibrosis.