Recognizing Genetic Disease: A Key Aspect of Pediatric Pulmonary Care

Overview

Journal Pediatr Pulmonol

Specialties Pediatrics
Pulmonary Medicine

Date 2020 Jun 14

PMID 32533909

Authors

Lael M Yonker

Megan H Hawley

Peter P Moschovis

Mengdi Lu

T Bernard Kinane

Affiliations

Soon will be listed here.

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

Willemsen M, Breedveld G, Wouda S, Otten B, Yntema J, Lammens M . Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene. Eur J Pediatr. 2004; 164(1):28-30. DOI: 10.1007/s00431-004-1559-x. View

Nettore I, Mirra P, Ferrara A, Sibilio A, Pagliara V, Suemi Kamoi Kay C . Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature. Thyroid. 2013; 23(6):675-82. DOI: 10.1089/thy.2012.0267. View

Nogee L . Interstitial lung disease in newborns. Semin Fetal Neonatal Med. 2017; 22(4):227-233. PMC: 5537026. DOI: 10.1016/j.siny.2017.03.003. View

Young L, Deutsch G, Bokulic R, Brody A, Nogee L . A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy. Chest. 2013; 144(4):1199-1206. PMC: 3787915. DOI: 10.1378/chest.13-0811. View

Thurm T, Kaltenborn E, Kern S, Griese M, Zarbock R . SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress. Eur J Clin Invest. 2013; 43(8):791-800. DOI: 10.1111/eci.12107. View

Parent F, Bachir D, Inamo J, Lionnet F, Driss F, Loko G . A hemodynamic study of pulmonary hypertension in sickle cell disease. N Engl J Med. 2011; 365(1):44-53. DOI: 10.1056/NEJMoa1005565. View

Gomes V, Silva M, Maia Filho J, Daltro P, Ramos S, Brody A . Diagnostic criteria and follow-up in neuroendocrine cell hyperplasia of infancy: a case series. J Bras Pneumol. 2013; 39(5):569-78. PMC: 4075883. DOI: 10.1590/S1806-37132013000500007. View

Weese-Mayer D, Silvestri J, Huffman A, Kowal M, Maher B, Cooper M . Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. Am J Med Genet. 2001; 100(3):237-45. DOI: 10.1002/ajmg.1249. View

Hoeper M, Bogaard H, Condliffe R, Frantz R, Khanna D, Kurzyna M . Definitions and diagnosis of pulmonary hypertension. J Am Coll Cardiol. 2013; 62(25 Suppl):D42-50. DOI: 10.1016/j.jacc.2013.10.032. View

10.

Griese M . Pulmonary Alveolar Proteinosis: A Comprehensive Clinical Perspective. Pediatrics. 2017; 140(2). DOI: 10.1542/peds.2017-0610. View

11.

Griese M . Pulmonary surfactant in health and human lung diseases: state of the art. Eur Respir J. 1999; 13(6):1455-76. DOI: 10.1183/09031936.99.13614779. View

12.

Goel D, Oei J, Shand A, Mowat D, Loo C . FOXF1 gene mutation in alveolar capillary dysplasia associated with Hirschsprung's disease and clinical review. J Paediatr Child Health. 2016; 52(7):787-8. DOI: 10.1111/jpc.13191. View

13.

Nur N, Lang C, Hodax J, Quintos J . Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature. Case Rep Pediatr. 2017; 2017:7939854. PMC: 5412170. DOI: 10.1155/2017/7939854. View

14.

Ren C, Borowitz D, Gonska T, Howenstine M, Levy H, Massie J . Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis. J Pediatr. 2017; 181S:S45-S51.e1. DOI: 10.1016/j.jpeds.2016.09.066. View

15.

Amin N, Alvi N, Barth J, Field H, Finlay E, Tyerman K . Pseudohypoaldosteronism type 1: clinical features and management in infancy. Endocrinol Diabetes Metab Case Rep. 2014; 2013:130010. PMC: 3922296. DOI: 10.1530/EDM-13-0010. View

16.

Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska K . Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat. 2013; 34(6):801-11. PMC: 3663886. DOI: 10.1002/humu.22313. View

17.

Weese-Mayer D, Berry-Kravis E, Ceccherini I, Keens T, Loghmanee D, Trang H . An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010; 181(6):626-44. DOI: 10.1164/rccm.200807-1069ST. View

18.

Tong Y, Schneider J, Coda A, Hata T, Cohen P . Birt-Hogg-Dubé Syndrome: A Review of Dermatological Manifestations and Other Symptoms. Am J Clin Dermatol. 2017; 19(1):87-101. DOI: 10.1007/s40257-017-0307-8. View

19.

Shapiro A, Davis S, Polineni D, Manion M, Rosenfeld M, Dell S . Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2018; 197(12):e24-e39. PMC: 6006411. DOI: 10.1164/rccm.201805-0819ST. View

20.

Patnaik M, Kamath P, Simonetto D . Hepatic manifestations of telomere biology disorders. J Hepatol. 2018; 69(3):736-743. DOI: 10.1016/j.jhep.2018.05.006. View