PMC7719313_01
Computed tomography (CT) imaging of the chest and kidney.
OTT-13-12421-g0001.jpg
PMC7719313_01_OTT-13-12421-g0001.jpg
f0001
As shown in Figure 1A, chest high-resolution computed tomography (HRCT) showed numerous thin-walled cysts within the lungs and diffuse ground-glass lung opacities, consistent with the diagnosis of LAM. As shown in Figure 1B, abdominal contrast-enhanced CT showed a lesion at the lower pole of the right kidney (1.7 cm x 1.8 cm), which is of a non-fatty component.
Histopathologic analysis.
OTT-13-12421-g0002.jpg
PMC7719313_01_OTT-13-12421-g0002.jpg
f0002
Sequence chromatograms of the TSC2 gene.
OTT-13-12421-g0003.jpg
PMC7719313_01_OTT-13-12421-g0003.jpg
f0003
We checked for mutations of TSC1 and TSC2 genes from both blood and kidney lesions and found a heterozygous mutation of c.1717-30G> A in intron 16 of the TSC2 gene (Figures 3 and 4).
Pedigree for the family with a TSC2 mutation.
OTT-13-12421-g0004.jpg
PMC7719313_01_OTT-13-12421-g0004.jpg
f0004
We checked for mutations of TSC1 and TSC2 genes from both blood and kidney lesions and found a heterozygous mutation of c.1717-30G> A in intron 16 of the TSC2 gene (Figures 3 and 4). Although not showing any clinical manifestations from history and physical examination, the patient's mother, son, and daughter showed the same mutation (Figure 4).