A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation
| العنوان: | A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation |
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| المؤلفون: | Hidenori Kawasaki, Shintaro Hanaoka, Kazutoshi Cho, Takahiro Yamada, Masahiro Hayakawa, Hironori Haga, Akiko Kitano, Tetsuo Onda, Sachiko Minamiguchi, Masahiko Ikeda, Akiko Saito, Masato Nakaguro, Yoshiyuki Takahashi, Seiichi Tomotaki, Masahiko Kawai, Atsuko Nakazawa |
| المصدر: | Diagnostic Pathology, Vol 15, Iss 1, Pp 1-7 (2020) Diagnostic Pathology |
| بيانات النشر: | Springer Science and Business Media LLC, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, CD31, Alveolar capillary dysplasia, Pathology, medicine.medical_specialty, Histology, Glomeruloid endothelial proliferation, Autopsy, 030105 genetics & heredity, Histogenesis, Persistent Fetal Circulation Syndrome, Pathology and Forensic Medicine, 03 medical and health sciences, Familial, Case report, lcsh:Pathology, medicine, Humans, Lymphangiectasis, FOXF1, business.industry, Infant, Newborn, Endothelial Cells, Forkhead Transcription Factors, General Medicine, Misalignment of pulmonary vein, medicine.disease, 030104 developmental biology, Lymphatic system, Respiratory failure, Mutation, Female, business, Erg, lcsh:RB1-214 |
| الوصف: | Background Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare disorder of pulmonary vascular abnormality with persistent pulmonary hypertension of the newborn. The symptom usually presents within hours after birth, leading to an early demise. Heterozygous de novo point mutations and genomic deletions of the FOXF1 (forkhead box F1) gene or its upstream enhancer have been identified in most patients with ACD/MPV. Most cases of ACD/MPV are sporadic; however, familial cases are also reported in 10% of patients. Case presentation We herein report a case of familial ACD/MPV that showed unusual glomeruloid proliferation of endothelial cells. In this family, three of the four siblings died within two to 3 days after birth because of persistent pulmonary hypertension and respiratory failure. Only the second child remains alive and healthy. An autopsy was performed for the third and fourth children, resulting in a diagnosis of ACD/MPV based on the characteristic features, including misalignment of smaller pulmonary veins and lymphangiectasis. In both of these children, glomeruloid endothelial proliferation of vessels was noted in the interlobular septa. The vessels were immunohistochemically positive for D2–40, CD31, Factor VIII, and ERG, suggestive of differentiation for both lymphatic and blood vessels. Conclusions Unusual glomeruloid endothelial proliferation was observed in a familial ACD/MPV case. This histologic feature has not been described previously in ACD/MPV or any other pulmonary disease. Although the histogenesis of this histologic feature is unclear, this finding may suggest that ACD/MPV is a compound vascular and lymphovascular system disorder that exhibits various histologic features. |
| تدمد: | 1746-1596 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ed49fb331fdeb98d6270c29ae79553Test https://doi.org/10.1186/s13000-020-00972-6Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....b7ed49fb331fdeb98d6270c29ae79553 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17461596 |
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