A case report of an adult cystic fibrosis with "severe" genotype
https://doi.org/10.18093/0869-0189-2014-0-6-122-125
Abstract
Cystic fibrosis (CF) is the commonest monogenic autosomal recessive disease. CF pathogenesis is based on systemic injury of exocrine glands due to CFTR gene mutation. CF case in an adult patient with "severe" genotype and multiple complications, such as chronic hypercapnic respiratory failure, diabetes mellitus, hepatic cirrhosis, cholelithiasis, pulmonary hypertension, and an episode of bowel obstruction, is described in the article. Despite of a number of complications this case demonstrated good efficacy of home respiratory support during 2.5 years. Novel methods of respiratory support, supplemental oxygen and intensive basic therapy have allowed stabilization his clinical status.
About the Authors
M. V. Usacheva
Federal Institution "Pulmonology Research Institute", Federal Medical and Biological Agency of Russia: 32, build. 4, 11th Parkovaya ul., Moscow, 105077, Russia Summary
Russian Federation
Russian Federation
Researcher of Cystic Fibrosis Laboratory, Federal State Budget Institution "Pulmonology Research Institute", Federal Medical and Biological Agency of Russia; tel.: (495) 465-74-15
S. A. Krasovskiy
Federal Institution "Pulmonology Research Institute", Federal Medical and Biological Agency of Russia: 32, build. 4, 11th Parkovaya ul., Moscow, 105077, Russia Summary
Russian Federation
Russian Federation
PhD, Senior Researcher of Cystic Fibrosis Laboratory, Federal State Budget Institution "Pulmonology Research Institute", Federal Medical and Biological Agency of Russia; tel.: (495) 465-74-15
G. E. Baymakanova
Federal Institution "Pulmonology Research Institute", Federal Medical and Biological Agency of Russia: 32, build. 4, 11th Parkovaya ul., Moscow, 105077, Russia Summary
Russian Federation
Russian Federation
MD, Senior Researcher of Laboratory of Intensive Care and Respiratory Failure, Federal State Budget Institution "Pulmonology Research Institute", Federal Medical and Biological Agency of Russia; tel. / fax: (495) 465-52-64
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Review
For citations:
Usacheva M.V., Krasovskiy S.A., Baymakanova G.E. A case report of an adult cystic fibrosis with "severe" genotype. PULMONOLOGIYA. 2014;(6):122-125. (In Russ.) https://doi.org/10.18093/0869-0189-2014-0-6-122-125
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