Two cases of pulmonary arterial hypertension with specific vascular Мalformations and unique eosinophilic inflammation in carriers of the RNF213 p. Arg4810Lys variant: Case series

Kenichiro Takeda; Ayumi Sekine; Nobuhiro Tanabe; Toshihiko Sugiura; Ayako Shigeta; Shinsuke Kitahara; Shun Imai; Tadasu Okaya; Jun Nagata; Akira Naito; Seiichiro Sakao; Koichiro Tatsumi; Takuji Suzuki

Respiratory Medicine Case Reports (Jan 2023)

Two cases of pulmonary arterial hypertension with specific vascular Мalformations and unique eosinophilic inflammation in carriers of the RNF213 p. Arg4810Lys variant: Case series

Kenichiro Takeda,
Ayumi Sekine,
Nobuhiro Tanabe,
Toshihiko Sugiura,
Ayako Shigeta,
Shinsuke Kitahara,
Shun Imai,
Tadasu Okaya,
Jun Nagata,
Akira Naito,
Seiichiro Sakao,
Koichiro Tatsumi,
Takuji Suzuki

Affiliations

Kenichiro Takeda: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan; Corresponding author. Department of Respirology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-Ku, Chiba, 260-8670, Japan.
Ayumi Sekine: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan
Nobuhiro Tanabe: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan; Department of Respirology, Chibaken Saiseikai Narashino Hospital, Narashino, Japan; Pulmonary Hypertension Center, Chibaken Saiseikai Narashino Hospital, Narashino, Japan
Toshihiko Sugiura: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan; Pulmonary Hypertension Center, Chibaken Saiseikai Narashino Hospital, Narashino, Japan
Ayako Shigeta: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan
Shinsuke Kitahara: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan
Shun Imai: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan; Pulmonary Hypertension Center, Chibaken Saiseikai Narashino Hospital, Narashino, Japan
Tadasu Okaya: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan
Jun Nagata: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan; Department of Respirology, Chibaken Saiseikai Narashino Hospital, Narashino, Japan; Pulmonary Hypertension Center, Chibaken Saiseikai Narashino Hospital, Narashino, Japan
Akira Naito: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan
Seiichiro Sakao: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan
Koichiro Tatsumi: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan
Takuji Suzuki: Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, 260-8670, Japan

Journal volume & issue: Vol. 42
p. 101829

Abstract

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RNF213 p.Arg4810Lys is linked to various vascular diseases, including pulmonary arterial hypertension (PAH); however, its pathogenesis remains unclear. Here, we report the unique features of two cases of severe PAH with this variant: one is the first reported case with stenosis of the thoracic and abdominal aorta, femoral arteries, and subclavian veins. Coexistence of severe and continuous eosinophilic inflammation, which has been suspected to be implicated in the pathogenesis of PAH in previous fundamental studies, was also present in both cases. Further studies are needed to clarify the pathogenetic mechanisms in vascular lesions with this variant.

Published in Respiratory Medicine Case Reports

ISSN: 2213-0071 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the respiratory system
Website: http://www.journals.elsevier.com/respiratory-medicine-case-reports/

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