Despite the rare incidence of Van der Hoeve syndrome in the population, the problem of treating patients with this type of disease is important for modern science and practical medicine. One of the most difficult tasks in treatment is to improve the quality of hearing. The world scientific community lacks a unified coordinated approach to the methods of auditory rehabilitation of patients with Van der Hoeve syndrome. In recent years, there have been tendencies in the scientific literature to increase the frequency of non-surgical approach due to the low incidence of satisfactory results of surgical treatment. In this regard, we present our experience of complex treatment of patients with Van der Hove syndrome, based on the use of modern surgical technologies and conservative pathogenetically substantiated treatment.
Несмотря на то что встречаемость синдрома Ван-дер-Хуве в популяции невелика, проблема лечения пациентов с этим видом заболевания имеет важное значение. Одной из наиболее сложных задач в лечении является улучшение качества слуха. У мирового научного сообщества на сегодняшний день отсутствует единый согласованный подход к методам слуховой реабилитации пациентов с синдромом Ван-дер-Хуве. В течение последних лет наметились тенденции к увеличению частоты применения нехирургического подхода ввиду его низкой результативности. В связи с этим мы представляем свой опыт комплексного лечения пациентов с синдромом Ван-дер-Хуве, основанный на использовании современных хирургических технологий и консервативного патогенетически обоснованного лечения.

Osteogenesis imperfecta (OI) is a rare inherited disorder of the connective tissue with many reports on its association with bleeding diatheses. OI patients with blue sclera, hearing loss, and bone vulnerability are classified as having van der Hoeve syndrome. Here, we report the first case of rapidly progressing, massive esophageal submucosal hematoma in this syndrome. Bleeding in OI is reportedly due to defective capillary integrity and platelet dysfunction; however, our patient did not show such findings. Multiple factors contributed to the bleeding diathesis, including dysfunction of platelet and platelet-endothelial cell interaction, which could not be proven in vitro.

CONCLUSIONS: The two discovered mutations in COL1A1 gene, although first reported in China, are recurrent ones that have also been found elsewhere in type I osteogenesis imperfecta patients, suggesting their role in pathogenesis of Van der Hoeve syndrome.
OBJECTIVE: The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness.
METHODS: Genomic DNA was extracted from the blood of each patient and exons of COL1A1 gene were amplified using PCR and sequenced.
RESULTS: Sequencing in some of the two family members revealed point mutations in exon 26 (c.1792C > T) and exon 43 (c.3076C > T) of COL1A1 gene, respectively.

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