title: A severe pulmonary complication in a patient with COL4A1-related disorder: A case report.
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.
authors.affiliation: Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita, Japan.
authors.forename: Yoshiichi
authors.initials: Y
authors.lastname: Abe
authors.affiliation: Department of Pediatrics, Beppu Developmental Medicine and Rehabilitation Center for Children with Mental Retardation and Motor Disabilities, Beppu-City, Oita, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Matsuduka
authors.affiliation: Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Okanari
authors.affiliation: Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Miyahara
authors.affiliation: Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.affiliation: Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu-City, Shizuoka, Japan.
authors.forename: Satoko
authors.initials: S
authors.lastname: Miyatake
authors.affiliation: Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu-City, Shizuoka, Japan.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita, Japan.
authors.forename: Maeda
authors.initials: M
authors.lastname: Tomoki
authors.affiliation: Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita, Japan. Electronic address: k-ihara@oita-u.ac.jp.
authors.forename: Kenji
authors.initials: K
authors.lastname: Ihara
mesh_terms: D001161:Arteriosclerosis / Q000235:genetics*; D002648:Child; D024141:Collagen Type IV / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006470:Hemorrhage / Q000235:genetics* / Q000401:mortality / Q000473:pathology*; D006801:Humans; D006978:Hypertension, Renovascular / Q000235:genetics*; D008297:Male; D011650:Pulmonary Alveoli / Q000473:pathology*; D065707:Schizencephaly / Q000235:genetics*
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV
keywords: Alveolar hemorrhage; COL4A1; Renovascular hypertension; Schizencephaly