Interstitial lung and liver disease

Definition:

Interstitial lung and liver disease (ILLD) is an autosomal recessive severe childhood form of pulmonary alveolar proteinosis. The main symptom is respiratory insufficiency, often leading to death in childhood or adolescence as a result of lung fibrosis. In addition to lung fibrosis, non-life-threatening liver involvement might be present, as indicated by elevated enzymes, steatosis, fibrosis, or cirrhosis. The mutations in MARS associated with ILLD have been reported.

References:

[1]. Alice Hadchouel, et al. Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island. Am J Hum Genet. 2015 May 7;96(5):826-31. [Content Brief]

[2]. Eline van Meel, et al. Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. BMC Med Genet. 2013 Oct 8;14:106. [Content Brief]

[3]. Jonathan Rips, et al. MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. Eur J Med Genet. 2018 Oct;61(10):616-620. [Content Brief]

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