Studija slučaja
https://doi.org/10.3325/cmj.2021.62.523
Multifocal micronodular pneumocyte hyperplasia with a novel mutation in TSC1: a case report
Ai Li
; Department of Respiratory and Critical Care Medicine, Second Affiliated Hospital of Kunming Medical University, Kunming, China
Rong Jiang
; Kunming Medical University, Kunming, China
Kaijun Ding
; Second Affiliated Hospital of Kunming Medical University, Kunming, China
Bingqian Yang
; Kunming Medical University, Kunming, China
Sažetak
We report on a 34-year-old woman diagnosed with tuberous sclerosis complex. The patient was admitted for
respiratory manifestations, while multi-organ involvement made the diagnostic process challenging. Genetic
testing revealed a novel mutation TSC1 c.2094_2110del
(p.His699Ter), which expands the disease-causing variant
spectrum. Our results may facilitate the disease diagnostics and help to devise genetic counseling and targeted
gene therapy.
Ključne riječi
Hrčak ID:
278801
URI
Datum izdavanja:
21.10.2021.
Posjeta: 577 *