A severe pulmonary complication in a patient with COL4A1-related disorder: A case report |
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| Affiliation: | 1. Department of Molecular and Cellular Biology, Beckman Research Institute of City of Hope, Duarte, CA, USA;2. Fujian Institute of Hematology, Fujian Medical University Union Hospital, Fuzhou, Fujian, China;3. Department of Virology, Beckman Research Institute of City of Hope, Duarte, CA, USA;4. Bone Marrow Transplantation Center, Department of Hematology, The First Affiliated Hospital, Zhejiang University, Hangzhou, China;5. Irell & Manella Graduate School of Biological Sciences of City of Hope, Duarte, CA, USA;6. Division of Comparative Medicine, Beckman Research Institute of City of Hope, Duarte, CA, USA;7. Department of Diabetes & Metabolic Diseases, Beckman Research Institute of City of Hope, Duarte, CA, USA;1. American University of Beirut, Beirut, Lebanon;2. Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Blat, Lebanon;3. Saint Vincent''s Medical Center, Bridgeport, CT, USA;4. Lincoln Medical Mental Health Center, Bronx, NY, USA;5. Saint Elizabeth''s Medical Center, Brighton, MA, USA;6. Texas Tech University, Health Sciences Center, El Paso, TX, USA;1. Genentech Inc, 1 DNA Way, South San Francisco, CA 94080, USA;2. Department of Ophthalmology, Department of Anatomy, Institute for Human Genetics, UCSF School of Medicine, San Francisco, CA 94143, USA;2. German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany;3. Department of Neuroradiology, University of Freiburg, Germany;4. Department of Neurology, GFO Kliniken Troisdorf, Germany |
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| 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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| Keywords: | Alveolar hemorrhage Schizencephaly Renovascular hypertension HANAC syndrome" },{" #name" :" keyword" ," $" :{" id" :" kwrd0035" }," $$" :[{" #name" :" text" ," _" :" Hereditary Angiopathy, Nephropathy, Aneurysms and muscle Cramps syndrome CNS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0045" }," $$" :[{" #name" :" text" ," _" :" central nervous system MRI" },{" #name" :" keyword" ," $" :{" id" :" kwrd0055" }," $$" :[{" #name" :" text" ," _" :" magnetic resonance imaging CT" },{" #name" :" keyword" ," $" :{" id" :" kwrd0065" }," $$" :[{" #name" :" text" ," _" :" computed tomography ANCA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0075" }," $$" :[{" #name" :" text" ," _" :" anti-neutrophil cytoplasmic antibody |
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