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A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.

Authors
  • Abe, Yoshiichi1
  • Matsuduka, Atsuko2
  • Okanari, Kazuo1
  • Miyahara, Hiroaki1
  • Kato, Mitsuhiro3
  • Miyatake, Satoko4
  • Saitsu, Hirotomo4
  • Matsumoto, Naomichi5
  • Tomoki, Maeda1
  • Ihara, Kenji6
  • 1 Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita, Japan. , (Japan)
  • 2 Department of Pediatrics, Beppu Developmental Medicine and Rehabilitation Center for Children with Mental Retardation and Motor Disabilities, Beppu-City, Oita, Japan. , (Japan)
  • 3 Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan. , (Japan)
  • 4 Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu-City, Shizuoka, Japan. , (Japan)
  • 5 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan. , (Japan)
  • 6 Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita, Japan. Electronic address: [email protected] , (Japan)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Mar 01, 2017
Volume
60
Issue
3
Pages
169–171
Identifiers
DOI: 10.1016/j.ejmg.2016.12.008
PMID: 28017902
Source
Medline
Keywords
License
Unknown

Abstract

Patients with COL4A1 mutation-related disorders demonstrate a variety of disease phenotypes, which caused by small-vessel dysfunction in the brain, eyes, kidney, muscle, or heart. The involvement of organs mainly depends on the expression of the COL4A1 gene. Complication or dysfunction of the alveolar tissue has not been reported in the literature on COL4A1 mutation-related disorders. We herein report the case of a boy with schizencephaly, renovascular hypertension, and retinal arteriosclerosis of unknown origin, who suffered from severe and repetitive alveolar hemorrhage at 9 years of age. A novel COL4A1 mutation was finally identified as the genetic cause. The pulmonary complication in the present case represents an important pathophysiological mechanism COL4A1 mutation-related disorders; lung tissue with COL4A1 gene mutations may be vulnerable and environmental substances and microorganisms in the air could accumulate to cause chronic damage in the alveolar tissues, especially in patients with tracheostoma and renovascular hypertension.

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