Gene mutations in sporadic lymphangioleiomyomatosis and genotype–phenotype correlation analysis

BMC Pulmonary Medicine

Table 2 Characteristics of patients with an identical VEZF1 mutation c.A659G

	LAM1	LAM2	LAM11	LAM14
^aAge	25	29	30	45
TSC2 mutation				x
Chyle
Renal AML				x
Lymphangioleiomyomas		x	x	x
Pneumothorax	x	x	x	x
CT grade	I	II	II	III
FEV₁%	75.8	73.6	82.6	54.8
DL_CO %	71.8	77	80.6	25.1
6MWD (meters)	531	589	540	333
VEGF-D (pg/ml)	710.3	322.9	2237.4	3192.4

AML angiomyolipoma, FEV₁%pred forced expiratory volume in first second percent predicted, DL_CO %pred diffusing capacity of carbon monoxide percent predicted, 6MWD six-minute walk distance, 6MWD six-minute walk distance, VEGF-D vascular endothelial growth factor-D
^aAge: the age when the patient was diagnosed

ISSN: 1471-2466