Abstract: FR-PO1059
RNF213 p.Arg4810Lys Variant Screening in Renovascular Hypertension in Korean Children
Session Information
- Hypertension and CVD: Clinical Outcomes, Trials
November 08, 2019 | Location: Exhibit Hall, Walter E. Washington Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Hypertension and CVD
- 1402 Hypertension and CVD: Clinical, Outcomes, and Trials
Authors
- Cho, Heeyeon, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea (the Republic of)
- Kim, Jeong yeon, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea (the Republic of)
Background
Moyamoya disease (MMD) -a steno-occlussive disease of the distal cerebral arteries- is often accompanied by renovascular hypertension (RVH), and a variant of RNF213 p.Arg4810Lys is known as a susceptibility gene of MMD. There is a report for a RNF213 variant-associated vasculopathy with peripheral pulmonary arterial stenosis and homozygous variant for RNF213 p.Arg4810Lys without the presence of MMD. The purpose of this study was to evaluate clinical manifestations and gene test for the RNF213 variant in Korean pediatric patients with initially presenting with isolated RVH.
Methods
A retrospective analysis of medical records in pediatric patients with isolated RVH from January 2001 to October 2017 were performed. The presence of renovascular hypertension was confirmed by computer tomography (CT) angiography or renal doppler ultrasonography. The genetic test for RNF213 variant was performed in the pediatric patients with RVH.
Results
The gene test for RNF213 was performed in 11 patients with isolated RVH. The molecular testing revealed homozygosity of RNF213 p.Arg4810Lys in 5 patients, and heterozygosity in 2 patients. Among 7 patients with RNF213 variant, on CT angiography, it revealed bilateral renal artery stenosis of ostial lesions in 3 of the patients and unilateral stenosis of ostial to proximal lesions in 4 of the patients. Among 7 patients with RNF213 variant, MMD developed in 4 patients during follow-up. In one patient with homozygosity of RNF213 p.Arg4810Lys, he showed the isolated RVH, and his mother with heterozygosity of RNF213 p.Arg4810Lys presented with MMD and no evidence of RVH.
Conclusion
Our study suggests that RNF213 may be the causative gene in RVH in Korean children. The screening for MMD and other organ involvement might be helpful in children and family members with RVH and RNF213 variant.
| Case | sex | RNF213 | Brain image | Time interval RVHT →MMD | Family History |
| 1 | F | Homo | MMD | 2 months | Sibling: case 2, MMD (+), RVHT (+) |
| 2 | F | Homo | MMD | 1 week | Sibling: case 1, MMD (+), RVHT (+) |
| 3 | M | Homo | normal | - | NA |
| 4 | M | Hetero | normal | - | Twin Brother (hetero) , MMD (-), RVHT (-) |
| 5 | F | Hetero | MMD | 6 years | Mother(hetero), MMD (+), RVHT (-) |
| 6 | M | Homo | normal | - | Father (hetero), MMD (-), RVHT (-) Mother (hetero), MMD (+), RVHT (-) Elder brother (Hetero), MMD (-), RVHT (-) Elder sister (Homo), MMD (-), RVHT (+) |
| 7 | M | Homo | MMD | 10 years | Father (hetero), MMD (+), RVHT (-) Mother (hetero), MMD (-), RVHT (-) Younger sister (Hetero), MMD (-), RVHT (-) |