01 February 2024 : Case report
[In Press] Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge
Unknown etiology, Unusual clinical course, Challenging differential diagnosis, Rare coexistence of disease or pathologyManal Albalawi1BEG, Abdullah Al-Shamrani23ABD, Ahmed Sarar Mohamed4EF, Sarar Mohamed23ACDF
Am J Case Rep In Press; DOI: 10.12659/AJCR.942444
Available online: 2024-02-01, In Press, Corrected Proof
Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease that can present at different ages with different phenotypes. Missed and delayed diagnoses are fairly common. Many variants in the DNAH5 gene have been described that confirm the diagnosis of PCD. Advances in medicine, especially in molecular genetics, have led to increasingly early discoveries of such cases, especially in those with nonclassical presentations.
This report describes a patient with bronchiectasis, lung cysts, finger clubbing, and failure to thrive who was misdiagnosed for several years as having asthma. Many differentials were suspected and worked up, including a suspicion of PCD. Genetic tests with whole-exome sequencing (WES) and whole-genome sequencing (WGS) detected a heterozygous, likely pathogenic, variant in the DNAH5 gene associated with PCD.
Despite a thorough workup done for this case, including a genetic workup, a PCD diagnosis was not established. We plan to reanalyze the WGS in the future, and with advent of technology and better coverage of genes, a genetic answer for this challenging case may resolve this diagnostic quandary in the future.
Keywords: Ciliary Motility Disorders; Lung Diseases; Bronchiectasis; Cilia; Cystic Disease of Lung; DNAH5 Protein, Human
18 Jan 2024 : Case reportA Case of Left-Sided Acute Appendicitis in a 45-Year-Old Man with Situs Inversus Totalis Managed by Emergen...
Am J Case Rep In Press; DOI: 10.12659/AJCR.942323
23 Jan 2024 : Case reportCloacal Dysgenesis Sequence in a Preterm Neonate
Am J Case Rep In Press; DOI: 10.12659/AJCR.942203
09 Feb 2024 : Case reportA Case of Trauma-Related Angioedema of the Airway in a Patient on an Angiotensin Receptor Blocker
Am J Case Rep In Press; DOI: 10.12659/AJCR.943407
Most Viewed Current Articles
10 Jan 2022 : Case reportA Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case reportAtlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19
Am J Case Rep 2022; 23:e936128
05 Mar 2022 : Case reportAcute Limb Ischemia After Self-Injection of Crushed Morphine Tablets into the Radial Artery: Role of Infrar...
Am J Case Rep 2022; 23:e935336