PedAM
Pediatric Disease Annotations & Medicines
| Disease | liver disease |
| Phenotype | C0030293|pancreatic insufficiency |
| Sentences | 1 |
| PubMedID- 24039402 | In general, this correlates well with a more severe phenotype involving pancreatic insufficiency (<95% of cases), liver disease (3%–5% of cases), young age at diagnosis (usually less than one year), high sweat chloride levels (<80 mmol/l), and meconium ileus (around 20% of cases).21–24 class iv, v, and vi cftr mutations are usually associated with some residual cftr function and a more variable and sometimes milder disease with pancreatic sufficiency (70%–80% of cases), lower sweat chloride levels, no meconium ileus, and milder pulmonary disease.24the class iv, v, and vi mutations usually dominate in patients who are compound heterozygotes. |
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