Recognizing genetic disease: A key aspect of pediatric pulmonary care

Pediatric Pulmonology
Lael M YonkerT Bernard Kinane

Abstract

Advancement in technology has improved recognition of genetic etiologies of disease, which has impacted diagnosis and management of rare disease patients in the pediatric pulmonary clinic. This review provides an overview of genetic conditions that are likely to present with pulmonary features and require extensive care by the pediatric pulmonologist. Increased familiarity with these conditions allows for improved care of these patients by reducing time to diagnosis, tailoring management, and prompting further investigation into these disorders.

References

Sep 1, 1993·American Journal of Medical Genetics·D E Weese-MayerJ J Hoo
Dec 1, 1993·Journal of the American Academy of Dermatology·J S RothM E Grossman
Jan 1, 1993·Dermatology : International Journal for Clinical and Investigative Dermatology·K U SchallreuterJ M Wood
Jan 1, 1993·Digestive Diseases and Sciences·K E BrownB M Myers
Mar 1, 1993·European Journal of Vascular Surgery·S BrearleyJ D Hamer
Mar 20, 1998·The Journal of Pediatrics·A HamoshG R Cutting
Mar 18, 2000·Kidney International·P L Zeitlin
Aug 25, 2001·The New England Journal of Medicine·T J Gross, G W Hunninghake
Dec 3, 2003·Radiology·Amato Antonio Stabile IanoraGiuseppe Angelelli
Dec 26, 2003·The New England Journal of Medicine·Bruce C TrapnellKoh Nakata
Sep 16, 2004·Ultraschall in der Medizin : Organ der Deutschen Gesellschaft für Ultraschall in der Medizin, [der] Österreichischen Gesellschaft für Ultraschall in der Medizin, [der] Schweizerischen Gesellschaft für Ultraschall in Medizin und Biologie·E BuscariniA Zambelli
Feb 9, 2005·Kidney International·Carsten BergmannUNKNOWN APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie)
May 13, 2005·The New England Journal of Medicine·Steven M RoweEric J Sorscher
Jun 9, 2005·Traffic·Santiago M Di Pietro, Esteban C Dell'Angelica
Oct 28, 2005·European Journal of Human Genetics : EJHG·Lirong ZhuStephanie M Ware
Dec 6, 2005·Lancet·Daniel P Judge, Harry C Dietz
Aug 5, 2006·American Journal of Respiratory and Critical Care Medicine·Elizabeth M Berry-KravisDebra E Weese-Mayer
Oct 25, 2006·Fetal and Pediatric Pathology·B AntaoM Malone
Mar 30, 2007·The New England Journal of Medicine·Mary Y ArmaniosJames E Loyd
Jun 20, 2007·Journal of Clinical Immunology·J M Boyle, R H Buckley
Dec 25, 2007·The Journal of Comparative Neurology·Jason J RadleyPatrick R Hof
May 6, 2008·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·C CastellaniJ S Elborn
Jun 12, 2008·Annual Review of Genomics and Human Genetics·Marjan HuizingWilliam A Gahl
Jun 27, 2008·The European Respiratory Journal·B A FröhlichE W Russi
Aug 30, 2008·Proceedings of the National Academy of Sciences of the United States of America·Jonathan K AlderMary Y Armanios
Mar 14, 2009·Blood·Blanche P AlterPhilip S Rosenberg
May 2, 2009·Annual Review of Genomics and Human Genetics·Mary Armanios
Jul 9, 2009·Journal of the American College of Cardiology·Rajiv D MachadoWendy K Chung
Jul 3, 2009·Hormone Research·Felix G Riepe
Mar 6, 2010·American Journal of Respiratory and Critical Care Medicine·Csaba GalambosHarry Kozakewich
Mar 9, 2010·American Journal of Respiratory and Critical Care Medicine·Debra E Weese-MayerUNKNOWN ATS Congenital Central Hypoventilation Syndrome Subcommittee

❮ Previous
Next ❯

Citations

Dec 30, 2021·Pediatric Pulmonology·Timothy J VeceWilliam A Gower

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.