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Interstitial Lung and Liver Disease (ILLD)

  • Parniyan Sadeghi,
  • Sara Hanaei

摘要

Interstitial lung and liver disease (ILLD) is a genetic disorder that affects the lungs and liver. This disorder typically presents in infancy or early childhood, and the onset of respiratory insufficiency and progressive liver disease characterizes it. The reported cases by Van Meel et al. (2013) and Hadchouel et al. (2015) shed light on the clinical features and complexities of this disease. A patient who appeared with severe failure to thrive, vomiting, and hypotonia soon after birth was described by Van Meel et al. The infant developed anemia, interstitial lung disease, hypothyroidism, lactic acidosis, and aminoaciduria as they grew older. Although there was a motor delay, cognitive development was unaffected. Hadchouel et al., on the other hand, described a larger group of children who had respiratory distress, coughing, and failure to thrive in childhood. Having lung fibrosis frequently resulted in respiratory failure and early mortality. Pulmonary alveolar proteinosis was discovered by whole-lung lavage, and all patients had liver disease, as seen by high enzyme levels, steatosis, fibrosis, and, in some cases, cirrhosis.