Year in Review 2020: Multisystemic impact of cystic fibrosis
Preeti B. Sharma MD
Department of Pediatrics, Division of Pulmonary and Sleep Medicine, University of Texas Southwestern and Children's Health, Dallas, Texas, USA
Search for more papers by this authorCorresponding Author
Meghana Sathe MD
Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, University of Texas Southwestern and Children's Health, UT Southwestern Medical Center, Dallas, Texas, USA
Correspondence Meghana Sathe, MD, Division of Gastroenterology, Hepatology and Nutrition, University of Texas Southwestern and Children's Health, UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Email: [email protected]
Search for more papers by this authorAdrienne P. Savant MD
Department of Pediatrics, Division of Pulmonary Medicine, Tulane University School of Medicine, Children's Hospital of New Orleans, New Orleans, Louisiana, USA
Search for more papers by this authorPreeti B. Sharma MD
Department of Pediatrics, Division of Pulmonary and Sleep Medicine, University of Texas Southwestern and Children's Health, Dallas, Texas, USA
Search for more papers by this authorCorresponding Author
Meghana Sathe MD
Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, University of Texas Southwestern and Children's Health, UT Southwestern Medical Center, Dallas, Texas, USA
Correspondence Meghana Sathe, MD, Division of Gastroenterology, Hepatology and Nutrition, University of Texas Southwestern and Children's Health, UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Email: [email protected]
Search for more papers by this authorAdrienne P. Savant MD
Department of Pediatrics, Division of Pulmonary Medicine, Tulane University School of Medicine, Children's Hospital of New Orleans, New Orleans, Louisiana, USA
Search for more papers by this authorAbstract
Clinical care in cystic fibrosis (CF) has continued to advance over the last several years, particularly with the widespread eligibility and use of highly effective modulator therapy. Improved outcomes and longevity of persons with CF (PwCF) have increased recognition of the multisystem impact of the disease on the daily lives of PwCF. This review will cover a broad array of topics, from diagnosis to multisystem effects related to mental health, endocrine, palliative care, reproductive health, otolaryngology, and cardiac issues. Additionally, worldwide care delivery will be reviewed, demonstrating variation in outcomes based on resources and populations served. This review is part of the CF Year in Review 2020 series, focusing on the multi-system effects of CF. This review focuses on articles from Pediatric Pulmonology but also includes articles published in 2020 from other journals that are of particular interest to clinicians.
CONFLICT OF INTERESTS
The authors declare that there are no conflict of interests.
REFERENCES
- 1Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017; 181: S4-S15.
- 2Farrell MH, La Pean Kirschner A, Tluczek A, Farrell PM. Experience with parent follow-up for communication outcomes after newborn screening identifies carrier status. J Pediatr. 2020; 224: 37-43.
- 3Farrell MH, Sims AM, La Pean Kirschner A, Farrell PM, Tarini BA. Vulnerable child syndrome and newborn screening carrier results for cystic fibrosis or sickle cell. J Pediatr. 2020; 224: 44-50.
- 4Çolak Y, Nordestgaard BG, Afzal S. Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population. Eur Respir J. 2020; 56(3): 1-12.
- 5Miller AC, Comellas AP, Hornick DB, et al. Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions. Proc Natl Acad Sci U S A. 2020; 117(3): 1621-1627.
- 6Martin C, Burgel PR. Carriers of a single CFTR mutation are asymptomatic: an evolving dogma? Eur Respir J. 2020; 56(3): 10-13.
- 7Schlüter DK, Southern KW, Dryden C, Diggle P, Taylor-Robinson D. Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study. Thorax. 2019; 75: 123-131.
- 8Ďurč P, Foret F, Homola L, et al. Skin wipe test: a simple, inexpensive, and fast approach in the diagnosis of cystic fibrosis. Pediatr Pulmonol. 2020; 55(7): 1653-1660.
- 9McColley SA, Elbert A, Wu R, Ren CL, Sontag MK, LeGrys VA. Quantity not sufficient rates and delays in sweat testing in US infants with cystic fibrosis. Pediatr Pulmonol. 2020; 55(11): 3053-3056.
- 10Munck A, Bourmaud A, Bellon G, Picq P, Farrell PM. Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening. Pediatr Pulmonol. 2020; 55(4): 918-928.
- 11Rock MJ. How to define CRMS/CFSPID conversion to CF. Pediatr Pulmonol. 2020; 55(7): 1548-1549.
- 12Terlizzi V, Mergni G, Centrone C, Festini F, Taccetti G. Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: is there a risk of increasing sweat chloride over time? Pediatr Pulmonol. 2020; 55(5): 1089-1093.
- 13Quittner AL, Abbott J, Georgiopoulos AM, et al. International Committee on Mental Health in Cystic Fibrosis: Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus statements for screening and treating depression and anxiety. Thorax. 2016; 71(1): 26-34.
- 14Liu FF, Lew A, Andes E, et al. Implementation strategies for depression and anxiety screening in a pediatric cystic fibrosis center: a quality improvement project. Pediatr Pulmonol. 2020; 55(12): 3328-3336.
- 15Quittner AL, Abbott J, Hussain S, et al. Integration of mental health screening and treatment into cystic fibrosis clinics: evaluation of initial implementation in 84 programs across the United States. Pediatr Pulmonol. 2020; 55(11): 2995-3004.
- 16Borschuk AP, Molitor S, Everhart RS, Siracusa C, Filigno SS. Executive functioning in pediatric cystic fibrosis: a preliminary study and conceptual model. Pediatr Pulmonol. 2020; 55(4): 939-947.
- 17Lowery EM, Afshar M, West N, Kovacs EJ, Smith B, Joyce C. Self-reported alcohol use in the cystic fibrosis community. J Cyst Fibros. 2020; 19(1): 84-90.
- 18Toprak D, Nay L, McNamara S, Rosenberg AR, Rosenfeld M, Yi-Frazier JP. Resilience in adolescents and young adults with cystic fibrosis: a pilot feasibility study of the promoting resilience in stress management intervention. Pediatr Pulmonol. 2020; 55(3): 638-645.
- 19Amerio A, Sibilla F, Pescini R, et al. Mental health and cystic fibrosis: time to move from secondary prevention to predictive medicine. Pediatr Pulmonol. 2020; 55(9): 2204-2206.
- 20Hente E, Sears R, Cotton S, et al. A pilot study of mindfulness-based cognitive therapy to improve well-being for health professionals providing chronic disease care. J Pediatr. 2020; 224: 87-93.e1.
- 21Olesen HV, Drevinek P, Gulmans VA, et al. Cystic fibrosis related diabetes in Europe: prevalence, risk factors and outcome. J Cyst Fibros. 2020; 19(2): 321-327.
- 22Prentice BJ, Ooi CY, Verge CF, Hameed S, Widger J. Glucose abnormalities detected by continuous glucose monitoring are common in young children with cystic fibrosis. J Cyst Fibros. 2020; 19(5): 700-703.
- 23Chan C. Cystic fibrosis related diabetes: revisiting the OGTT and alternative screening tests. J Cyst Fibros. 2020; 19(5): 671-672.
- 24Kilberg MJ, Sheikh S, Stefanovski D, et al. Dysregulated insulin in pancreatic insufficient cystic fibrosis with post-prandial hypoglycemia. J Cyst Fibros. 2020; 19(2): 310-315.
- 25Armaghanian N, Hetherington J, Parameswaran V, et al. Hypoglycemia in cystic fibrosis during an extended oral glucose tolerance test. Pediatr Pulmonol. 2020; 55(12): 3391-3399.
- 26Sherwood JS, Jafri RZ, Balliro CA, et al. Automated glycemic control with the bionic pancreas in cystic fibrosis-related diabetes: a pilot study. J Cyst Fibros. 2020; 19(1): 159-161.
- 27Gur M, Bar-Yoseph R, Diab G, et al. Understanding the interplay between factors that influence bone mineral density in CF. Pediatr Pulmonol. 2020; 55(10): 2667-2673.
- 28Trandel ET, Pilewski JM, Dellon EP, et al. Prevalence of unmet palliative care needs in adults with cystic fibrosis. J Cyst Fibros. 2020; 19(3): 394-401.
- 29Trandel ET, Kavalieratos D, Basile M, et al. Palliative care skills in CF: perspectives of adults with CF, caregivers, and CF care team members. Pediatr Pulmonol. 2020; 55(8): 2017-2024.
- 30Waldman E, Quinn M. Palliative care and cystic fibrosis: opportunities for growth. Pediatr Pulmonol. 2020; 55(9): 2179-2180.
- 31Bell SC, Mall MA, Gutierrez H, et al. The future of cystic fibrosis care: a global perspective. Lancet Respir Med. 2020; 8(1): 65-124.
- 32Dogru D, Çakır E, Eyüboğlu TŞ, Pekcan S, Özçelik U. Cystic fibrosis in Turkey. Lancet Respir Med. 2020; 8(4):e17.
- 33Shi R, Wang X, Lu X, et al. A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis. Pediatr Pulmonol. 2020; 55(11): 3005-3011.
- 34Dogru D, Çakır E, Şişmanlar T, et al. Cystic fibrosis in Turkey: first data from the national registry. Pediatr Pulmonol. 2020; 55(2): 541-548.
- 35Shen Y, Tang X, Liu J, Li H, Zhao S. Pseudo-Bartter syndrome in Chinese children with cystic fibrosis: clinical features and genotypic findings. Pediatr Pulmonol. 2020; 55(11): 3021-3029.
- 36Sismanlar Eyuboglu T, Dogru D, Çakır E, et al. Clinical features and accompanying findings of pseudo-Bartter syndrome in cystic fibrosis. Pediatr Pulmonol. 2020; 55(8): 2011-2016.
- 37Owusu SK, Morrow BM, White D, et al. Cystic fibrosis in black African children in South Africa: a case control study. J Cyst Fibros. 2019; 19: 540-545.
- 38Fitzgerald C, Linnane B, George S, et al. Neonatal screening programme for CF: results from the Irish Comparative Outcomes Study (ICOS). Pediatr Pulmonol. 2020; 55(9): 2323-2329.
- 39M S, A K, M D. First case of cystic fibrosis in Greenland—diagnosed by neonatal screening. J Cyst Fibros. 2020; 19(3): e14-e15.
- 40Pasterkamp H, Menzies KJ, Bayomi DJ. Cystic fibrosis in Canadian Hutterites. Pediatr Pulmonol. 2020; 55(2): 526-532.
- 41Zybert K, Wozniacki L, Tomaszewska-Sobczyńska A, et al. Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population. Pediatr Pulmonol. 2020; 55(8): 2097-2107.
- 42Rowbotham NJ, Smith S, Leighton PA, et al. The top 10 research priorities in cystic fibrosis developed by a partnership between people with CF and healthcare providers. Thorax. 2018; 73(4): 388-390.
- 43Hollin I, Donaldson S, Roman C, et al. Beyond the expected: identifying broad research priorities of researchers and the cystic fibrosis community. J Cyst Fibros. 2019; 18(3): 375-377.
- 44Davies G, Rowbotham NJ, Smith S, et al. Characterising burden of treatment in cystic fibrosis to identify priority areas for clinical trials. J Cyst Fibros. 2020; 19(3): 499-502.
- 45Cooley L, Hudson J, Potter E, Raymond KF, George C, Georgiopoulos AM. Clinical communication preferences in cystic fibrosis and strategies to optimize care. Pediatr Pulmonol. 2020; 55(4): 948-958.
- 46Haywood KB, Goralski JL. The specialist as primary care provider in CF. J Cyst Fibros. 2020; 19(5): 844-845.
- 47Douglas TA, Pooley JA, Shields L, Stick SM, Branch-Smith C. Early disease surveillance in young children with cystic fibrosis: a qualitative analysis of parent experiences. J Cyst Fibros. 2020; 20(3): 511-515.
- 48Oates GR, Harris WT, Gutierrez HH, et al. Tobacco smoke exposure in pediatric cystic fibrosis: a qualitative study of clinician and caregiver perspectives on smoking cessation. Pediatr Pulmonol. 2020; 55(9): 2330-2340.
- 49Zobell JT, Moss J, Heuser SM, Asfour F. Impact of pharmacy technicians as part of an integrated health-system pharmacy team on improvement of medication access in the care of cystic fibrosis patients. Pediatr Pulmonol. 2020; 55(12): 3351-3357.
- 50Reynaud Q, Rousset Jablonski C, Poupon-Bourdy S, et al. Pregnancy outcome in women with cystic fibrosis and poor pulmonary function. J Cyst Fibros. 2020; 19(1): 80-83.
- 51Vijayasingam A, Frost E, Wilkins J, et al. Tablet and web-based audiometry to screen for hearing loss in adults with cystic fibrosis. Thorax. 2020; 75(8): 632-639.
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