Abstract

Возможности «молекулярной биопсии» в дифференциальной диагностике форм легочной артериальной гипертензии: описание случая и обзор литературы

Highlights

  • Precision studies of pulmonary arterial hypertension (PAH) have led to identification of the subgroup of pulmonary venoocclusive disease (PVOD)

  • Taking into consideration the genetic data, the diagnosis in this case was changed from idiopathic PAH to PVOD

  • We found a variant of a nucleotide sequence, which was previously described in patients with PVOD, in exon 21 of the EIF2AK4 c.C2965T gene in the heterozygous state

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Summary

Заметки из практики notes from practice

Possibilities of molecular biopsy in differential diagnosis of pulmonary arterial hypertension: case description and literature review. Возможности «молекулярной биопсии» в дифференциальной диагностике форм легочной артериальной гипертензии: описание случая и обзор литературы. The article describes the clinical case of the hereditary form of PAH in a 53-year-old woman. Taking into consideration the genetic data, the diagnosis in this case was changed from idiopathic PAH to PVOD. Implementation of molecular genetic methods in routine clinical examination of patients with PAH can greatly improve and speed up the diagnostic process. Исследование патогенетических аспектов развития легочной артериальной гипертензии (ЛАГ) привело к выделению в рамках первой группы заболеваний дополнительной подгруппы – 1’ – веноокклюзионная болезнь легких (ВБЛ). Представлено описание клинического случая семейной формы ЛАГ у пациентки 53 лет. A. POSSIBILITIES OF MOLECULAR BIOPSY IN DIFFERENTIAL DIAGNOSIS OF PULMONARY ARTERIAL HYPERTENSION: CASE DESCRIPTION AND LITERATURE REVIEW.

MEDICAL NEwS OF NORTH CAUCASUS
PAH alcohol
Discussion
Findings
Medical news of north caucasus
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