Quantification of Proteus syndrome-associated lung disease.
Christopher A OursAnna BuserMia B HodgesMarcus Y ChenJulie C SappBernadette R GochuicoLeslie G BieseckerPublished in: Orphanet journal of rare diseases (2024)
Proteus syndrome-associated lung disease is progressive. The rate of cystic progression is increased in children. Increased scores in CLS and CVS were associated with clinical symptoms and decreased pulmonary function. Both methods were able to detect change over time and were associated with clinically meaningful outcomes which may enable their use in interventional studies.