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

作者：Abe Yoshiichi; Matsuduka Atsuko; Okanari Kazuo; Miyahara Hiroaki; Kato Mitsuhiro; Miyatake Satoko; Saitsu Hirotomo; Matsumoto Naomichi; Tomoki Maeda; Ihara Kenji^*

来源：European Journal of Medical Genetics, 2017, 60(3): 169-171.

DOI：10.1016/j.ejmg.2016.12.008

• COL4A1
• Alveolar hemorrhage
• Schizencephaly
• Renovascular hypertension

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.

• 出版日期2017-3