Kartagener's Syndrome: A Case Series.

Kartagener's syndrome is an uncommon autosomal recessive ciliary dyskinesia. It combines a triad comprised of bronchiectasis, chronic sinusitis, and situs inversus. This work aims to describe the clinical and paraclinical aspects of primary ciliary dyskinesia using Kartagener's syndrome as a model and to highlight the difficulties of confirming the diagnosis in our context. We report four observations (three boys and one girl with an average age of 10 years) of Kartagener's syndrome collected in the department of pediatric pneumo-allergology. Chronic bronchorrhea and otorhinolaryngological manifestations were found in all cases. Signs of neonatal respiratory distress syndrome were found in only one case. One child had dysmorphic facial features suggestive of Noonan's syndrome and conductive hearing loss. Digital hippocratism was found in half of the cases, along with pulmonary crackles and heart sounds perceived on the right. A chest CT scan showed bronchiectasis in all patients and necrotic adenopathy suggestive of tuberculosis in one case. Sinus imaging showed an appearance of pansinusitis. All children had abdominal situs inversus with dextrocardia. They had received antibiotic therapy with amoxicillin-clavulanic acid associated with respiratory physiotherapy. The girl had benefited from a right lobectomy with a follow-up of 18 months and a good evolution. In light of these four observations, Kartagener's syndrome is a rare disease but can be compatible with normal life if the treatment is done early. However, in our context, the difficulty of confirming the diagnosis explains its delay with the risk of progression of pulmonary lesions.

Human Genetics of Defects of Situs.

Defects of situs are associated with complex sets of congenital heart defects in which the normal concordance of asymmetric thoracic and abdominal organs is disturbed. The cellular and molecular mechanisms underlying the formation of the embryonic left-right axis have been investigated extensively in the past decade. This has led to the identification of mutations in at least 33 different genes in humans with heterotaxy and situs defects. Those mutations affect a broad range of molecular components, from transcription factors, signaling molecules, and chromatin modifiers to ciliary proteins. A substantial overlap of these genes is observed with genes associated with other congenital heart diseases such as tetralogy of Fallot and double-outlet right ventricle, d-transposition of the great arteries, and atrioventricular septal defects. In this chapter, we present the broad genetic heterogeneity of situs defects including recent human genomics efforts.

Establishment of Cardiac Laterality.

Formation of the vertebrate heart with its complex arterial and venous connections is critically dependent on patterning of the left-right axis during early embryonic development. Abnormalities in left-right patterning can lead to a variety of complex life-threatening congenital heart defects. A highly conserved pathway responsible for left-right axis specification has been uncovered. This pathway involves initial asymmetric activation of a nodal signaling cascade at the embryonic node, followed by its propagation to the left lateral plate mesoderm and activation of left-sided expression of the Pitx2 transcription factor specifying visceral organ asymmetry. Intriguingly, recent work suggests that cardiac laterality is encoded by intrinsic cell and tissue chirality independent of Nodal signaling. Thus, Nodal signaling may be superimposed on this intrinsic chirality, providing additional instructive cues to pattern cardiac situs. The impact of intrinsic chirality and the perturbation of left-right patterning on myofiber organization and cardiac function warrants further investigation. We summarize recent insights gained from studies in animal models and also some human clinical studies in a brief overview of the complex processes regulating cardiac asymmetry and their impact on cardiac function and the pathogenesis of congenital heart defects.

Molecular Pathways and Animal Models of Defects in Situs.

Left-right patterning is among the least well understood of the three axes defining the body plan, and yet it is no less important, with left-right patterning defects causing structural birth defects with high morbidity and mortality, such as complex congenital heart disease, biliary atresia, or intestinal malrotation. The cell signaling pathways governing left-right asymmetry are highly conserved and involve multiple components of the TGF-ß superfamily of cell signaling molecules. Central to left-right patterning is the differential activation of Nodal on the left, and BMP signaling on the right. In addition, a plethora of other cell signaling pathways including Shh, FGF, and Notch also contribute to the regulation of left-right patterning. In vertebrate embryos such as the mouse, frog, or zebrafish, the specification of left-right identity requires the left-right organizer (LRO) containing cells with motile and primary cilia that mediate the left-sided propagation of Nodal signaling, followed by left-sided activation of Lefty and then Pitx2, a transcription factor that specifies visceral organ asymmetry. While this overall scheme is well conserved, there are striking species differences, including the finding that motile cilia do not play a role in left-right patterning in some vertebrates. Surprisingly, the direction of heart looping, one of the first signs of organ left-right asymmetry, was recently shown to be specified by intrinsic cell chirality, not Nodal signaling, possibly a reflection of the early origin of Nodal signaling in radially symmetric organisms. How this intrinsic chirality interacts with downstream molecular pathways regulating visceral organ asymmetry will need to be further investigated to elucidate how disturbance in left-right patterning may contribute to complex CHD.

Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS.

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by the malfunction of motile cilia and a specific etiology of adult bronchiectasis of unknown prevalence. A better understanding of the clinical phenotype of adults with PCD is needed to identify individuals for referral to diagnostic testing. RESEARCH QUESTION: What is the frequency of PCD among adults with bronchiectasis; how do people with PCD differ from those with other etiologies; and which clinical characteristics are independently associated with PCD? STUDY DESIGN AND METHODS: We investigated the proportion of PCD among the participants of the German Bronchiectasis Registry PROGNOSIS, applied multiple imputation to account for missing data in 64 (FEV1), 58 (breathlessness), 26 (pulmonary exacerbations), and two patients (BMI), respectively, and identified predictive variables from baseline data using multivariate logistic regression analysis. RESULTS: We consecutively recruited 1,000 patients from 38 centers across all levels of the German health care system. Overall, PCD was the fifth most common etiology of bronchiectasis in 87 patients (9%) after idiopathic, postinfective, COPD, and asthma. People with PCD showed a distinct clinical phenotype. In multivariate regression analysis, the chance of PCD being the etiology of bronchiectasis increased with the presence of upper airway disease (chronic rhinosinusitis and/or nasal polyps; adjusted OR [aOR], 6.3; 95% CI, 3.3-11.9; P < .001), age < 53 years (aOR, 5.3; 95% CI, 2.7-10.4; P < .001), radiologic involvement of any middle and lower lobe (aOR, 3.7; 95% CI, 1.3-10.8; P = .016), duration of bronchiectasis > 15 years (aOR, 3.6; 95% CI, 1.9-6.9; P < .001), and a history of Pseudomonas aeruginosa isolation from respiratory specimen (aOR, 2.4; 95% CI, 1.3-4.5; P = .007). INTERPRETATION: Within our nationally representative cohort, PCD was a common etiology of bronchiectasis. We identified few easy-to-assess phenotypic features, which may promote awareness for PCD among adults with bronchiectasis. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov; No.: NCT02574143; URL: www. CLINICALTRIALS: gov.

A rare case report: Left middle lobectomy in recurrent hemoptysis and chest infections of Kartagener syndrome patient.

INTRODUCTION: Kartagener syndrome is rare, with an incidence of 1 in 32,000 live births. It consists of a triad of bronchiectasis, situs inversus, and sinusitis. Normally, the middle lobe is part of the right lung, but due to situs inversus, the middle lobe is part of the left lung, making it prone to bronchiectasis and infections. CASE REPORT: We present a unique case of a 16-year-old adolescent with a known history of Kartagener syndrome who presented with recurrent chest infections and hemoptysis refractory to conservative management. He was diagnosed with bronchiectasis of the left middle lobe through a computed tomography (CT) scan and subsequently underwent a posterolateral thoracotomy and left middle lobectomy. This is a rare finding with limited literature available on such cases, to the best of our knowledge. DISCUSSION: Conservative treatment is usually the first line of approach. However, in cases of recurrent chest infections and hemoptysis, surgical management is considered to prevent the infection from spreading to the healthy lung and to avoid life-threatening complications when medical therapy fails. Surgical intervention, while more invasive, can provide a definitive solution and improve the patient's quality of life. CONCLUSION: Early diagnosis of Kartagener syndrome is crucial for determining the appropriate management course. In patients presenting with recurrent hemoptysis and chest infections, surgical resection is an effective treatment approach to prevent complications and enhance long-term outcomes.

[Primary ciliary dyskinesia]. / Primäre Ciliäre Dyskinesie.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder with a variable clinical phenotype that is accompanied by reduced motility of the cilia in the respiratory tract and numerous other organs. This leads to various characteristic symptoms and disease manifestations, primarily affecting the lungs (chronic persistent productive cough, bronchiectasis), the nose and paranasal sinuses (chronic persistent rhinitis or rhinosinusitis) as well as the middle ear (chronic otitis media, middle ear effusion). Moreover, PCD is associated with impaired fertility or lateralization defects (situs anomalies, congenital heart defects). The diagnostics of PCD are complex and require a combination of several sophisticated instrument-based diagnostic procedures. Through thorough history taking and evaluation, suspected cases can be comparatively well identified based on typical clinical features and referred to further diagnostics. In recent years, molecular genetic analysis through panel diagnostics or whole exome and whole genome sequencing, has gained in importance as this enables affected individuals to participate in disease-specific and genotype-specific clinical trials. Although the current treatment is purely symptomatic, the earliest possible diagnosis is crucial for connecting patients to specialized PCD centers, which can have a significant impact on the clinical course of the affected individuals.

Late Diagnosis of Kartagener Syndrome in an Adult Female.

Kartagener syndrome (KS), also known as primary ciliary dyskinesia, is a rare genetic disorder commonly diagnosed early in childhood. It is characterized by a triad of findings, namely, situs inversus, chronic sinusitis, and bronchiectasis. Here, we present the case of a 73-year-old female who incidentally presented the KS triad during her imaging tests in the emergency department of our institution for COVID-19 symptoms.

Kartagener's Syndrome Complicated by Bronchiectasis with Tricuspid and Mitral Valve Regurgitation: A Case Report.

Background: Kartagener's syndrome, a rare autosomal recessive genetic disorder, is characterized by primary ciliary dyskinesia (PCD), resulting in defective cilia function in the respiratory tract and fallopian tubes. Case presentation: This case report discusses a 23-year-old female with Kartagener's syndrome, bronchiectasis, and cardiac involvement, who presented with shortness of breath, cough, and syncope. Notably, she received home oxygen therapy but became exhausted, leading to loss of consciousness. Clinical examination revealed prominent heart sounds and abnormal lung findings. Laboratory results indicated leukocytosis, and an ECG confirmed dextrocardia and cardiac abnormalities. Doppler studies identified mitral and tricuspid regurgitation along with severe pulmonary arterial hypertension. Antibiotics were administered for coagulase-negative Staphylococcus infection. The patient improved with a treatment regimen, including oxygenation and nebulization. Regular follow-up and patient education were emphasized. Conclusion: This case underscores the complexity of Kartagener's syndrome and the importance of a multidisciplinary approach in managing its respiratory and cardiac manifestations.

Navigating Infertility in Kartagener's Syndrome: A Clinical Case Report.

Kartagener's syndrome is a genetic condition that is caused by a triad of symptoms, which includes bronchiectasis, chronic sinusitis, and situs inversus, and is considered rare. It is caused by defective ciliary motility, leading to impaired mucociliary clearance. We report a case of a 24-year-old male who presented with primary infertility and a long-standing history of recurrent respiratory infections. Physical examination revealed dextrocardia and digital clubbing. Radiological investigations confirmed situs inversus totalis and bronchiectasis. Semen analysis revealed azoospermia. Genetic analysis was not done due to financial constraints. However, the constellation of clinical features was diagnostic of Kartagener's syndrome. The patient was managed with antibiotics and chest physiotherapy. In vitro fertilization (IVF) was advised for infertility. A successful pregnancy was achieved through IVF, indicating viable sperm despite immotility. The aforementioned case underscores the significance of maintaining a heightened sense of suspicion for Kartagener's syndrome in individuals exhibiting unexplained bronchiectasis and infertility. Early diagnosis can prevent chronic respiratory morbidity and enable parenthood through assisted reproduction.

Three cases of sperm immobility for intracytoplasmic sperm injection using testicular sperm.

Introduction: Sperm immobility is a condition in which sperm are viable but not motile. We reported three patients with sperm immobility, who underwent testicular sperm extraction-intracytoplasmic sperm injection. Case presentation: In case 1, a 32-year-old patient with sperm immobility had previously undergone intracytoplasmic sperm injection with ejaculated sperm; however, pregnancy was unsuccessful. testicular sperm extraction-intracytoplasmic sperm injection was performed at our clinic, and pregnancy was achieved. In case 2, a 23-year-old patient with clinical varicocele whose semen analysis revealed sperm immobility underwent varicocelectomy, without improvement. Using the hypo-osmotic swelling test technique, testicular sperm extraction-intracytoplasmic sperm injection was performed; however, pregnancy was not achieved. In case 3, a 44-year-old patient with sperm immobility underwent testicular sperm extraction, and motile sperm were retrieved. testicular sperm extraction-intracytoplasmic sperm injection using these sperm resulted in pregnancy. Conclusion: Although testicular sperm extraction-intracytoplasmic sperm injection is not considered a solution in patients with sperm immobility, pregnancies were achieved. testicular sperm extraction-intracytoplasmic sperm injection may be successful in some cases in which ejaculated sperm intracytoplasmic sperm injection is unsuitable.

Kartagener's syndrome: A rare condition diagnosed in a young male patient.

Kartagener's Syndrome is a rare autosomal recessive genetic condition, that affects the structure and function of cilia and includes a condition of situs inversus, chronic sinusitis, and bronchiectasis associated sometimes with infertility. A young patient who had a long-time fever, cough, and infertility after a clinical evaluation performed a chest X-ray and a CT scan that revealed the unexpected condition of Situs Inversus Totalis (SIT). Imaging also showed bronchiectasis and sinusitis: all findings consistent with Kartagener's syndrome, confirmed a second time by the genetic test. This case highlights the importance of knowing and considering situs inversus in clinical practice, particularly when interpreting imaging studies and planning medical interventions. Furthermore, as situs inversus may be associated with cardiovascular and pulmonary pathologies in several syndromic conditions, such as Kartagener's syndrome in this case, these conditions should always be carefully examined.

Persistent cough and situs inversus in a middle-aged female.

Kartagener syndrome, a rare genetic disorder, can present in adults with persistent respiratory symptoms and radiological changes, such as bronchiectasis and situs inversus. Clinicians should maintain a high clinical suspicion, as early recognition and appropriate management are crucial for preserving pulmonary function.

Síndrome de Kartagener y artritis reumatoide. Reporte de caso / Kartagener Syndrome and Rheumatoid Arthritis. Case Report

Presentación del caso. Se trata de una mujer de 26 años de edad, en seguimiento por la especialidad de reumatología desde los 17 años, cuando consultó con historia de un año de evolución de síndrome poliarticular de grandes y pequeñas articulaciones, aditivo, simétrico acompañado de fatiga, rigidez matutina mayor de una hora. Se reportó además factor reumatoide positivo. La radiografía de ambas manos presentó erosiones, que confirmó el diagnóstico de artritis reumatoide. Adicionalmente, la paciente tenía el antecedente de procesos sinobronquiales a repetición desde su infancia. En la evaluación médica se identificó dolor en los senos paranasales, dextrocardia y bronquiectasias, confirmados por los estudios de imágenes, que permitió concluir en el diagnóstico de síndrome de Kartagener. Intervención terapéutica. La paciente presentaba actividad clínica severa de la artritis reumatoide, se inició el tratamiento con metotrexato 10 mg vía oral un día a la semana, prednisona 5 mg al día y ácido fólico 5 mg a la semana y citas periódicas, controlando los datos de actividad y efectos adversos de los medicamentos, con pruebas hepáticas, hemograma y transaminasas. La especialidad de neumología recomendó la inclusión de la paciente en un programa de rehabilitación respiratoria, así como el uso de azitromicina 500 mg cada día por tres días en los períodos de agudización. Evolución clínica. El tratamiento logró mantener una actividad leve de la artritis reumatoide y sin exacerbación de los síntomas respiratorios

Case presentation. A 26-year-old woman, under follow-up by the rheumatology specialty since she was 17 years old, when she consulted with a history of one year of evolution of polyarticular disease of large and small joints, additive, symmetrical, accompanied by fatigue and morning stiffness for more than one hour. Positive rheumatoid factor was also reported. Additionally, the patient had a history of repeated sinobronchial processes since childhood. Medical examination revealed sinus pain in the paranasal sinuses, dextrocardia, and bronchiectasis, confirmed by imaging studies, which led to the diagnosis of Kartagener's syndrome. Treatment. The patient presented the severe clinical activity of rheumatoid arthritis. The treatment was started with methotrexate 10 mg orally one day a week, prednisone 5 mg a day, and folic acid 5 mg a week and periodic appointments, controlling the activity data and adverse effects of the drugs, with liver tests, hemogram, and transaminases. The pneumology department recommended the inclusion of the patient in a respiratory rehabilitation program as well as the use of azithromycin 500 mg every day for three days during periods of exacerbation. Outcome. The treatment was successful in maintaining a mild activity of the rheumatoid arthritis and without exacerbation of respiratory symptoms

Impact of primary ciliary dyskinesia: Beyond sinobronchial syndrome in Japan.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired motile cilia function, particularly in the upper and lower airways. To date, more than 50 causative genes related to the movement, development, and maintenance of cilia have been identified. PCD mostly follows an autosomal recessive inheritance pattern, in which PCD symptoms manifest only in the presence of pathogenic variants in both alleles. Several genes causing PCD have been recently identified that neither lead to situs inversus nor cause definitive abnormalities in ciliary ultrastructure. Importantly, the distribution of disease-causing genes and pathogenic variants varies depending on ethnicity. In Japan, homozygosity for a ∼27.7-kb deletion of DRC1 is estimated to be the most common cause of PCD, presumably as a founder mutation. The clinical picture of PCD is similar to that of sinobronchial syndrome, thus making its differentiation from diffuse panbronchiolitis and other related disorders difficult. Given the diagnostic challenges, many cases remain undiagnosed or misdiagnosed, particularly in adults. While no fundamental cure is currently available, lifelong medical subsidies are provided in Japan, and proper respiratory management, along with continued prevention and treatment of infections, is believed to mitigate the decline in respiratory function. Timely action will be necessary when specific treatments for PCD become available in the future. This narrative review focuses on variations in the disease status of PCD in a non-Western country.

Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia.

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. At least 12% of patients with PCD have situs ambiguus (SA), including organ laterality defects falling outside normal arrangement (situs solitus [SS]) or mirror image inversion (situs inversus totalis [SIT]). RESEARCH QUESTION: Do patients with PCD and SA achieve worse clinical outcomes compared with those with SS or SIT? STUDY DESIGN AND METHODS: This cross-sectional, multicenter study evaluated participants aged 21 years or younger with PCD. Participants were classified as having SA, including heterotaxy, or not having SA (SS or SIT). Markers of disease severity were compared between situs groups, adjusting for age at enrollment and severe CCDC39 or CCDC40 genotype, using generalized linear models and logistic and Poisson regression. RESULTS: In 397 participants with PCD (mean age, 8.4 years; range, 0.1-21), 42 patients were classified as having SA, including 16 patients (38%) with complex cardiovascular malformations or atrial isomerism, 13 patients (31%) with simple CVM, and 13 patients (31%) without cardiovascular malformations. Of these, 15 patients (36%) underwent cardiac surgery, 24 patients (57%) showed an anatomic spleen abnormality, and seven patients (17%) showed both. The remaining 355 participants did not have SA, including 152 with SIT and 203 with SS. Overall, 70 participants (17%) harbored the severe CCDC39 or CCDC40 genotype. Compared with participants without SA, those with SA showed lower median BMI z scores (P = .03), lower FVC z scores (P = .01), and more hospitalizations and IV antibiotic courses for acute respiratory infections during the 5 years before enrollment (P < .01). Participants with cardiovascular malformations requiring surgery or with anatomic spleen abnormalities showed lower median BMI z scores and more hospitalizations and IV therapies for respiratory illnesses compared with participants without SA. INTERPRETATION: Children with PCD and SA achieve worse nutritional and pulmonary outcomes with more hospitalizations for acute respiratory illnesses than those with SS or SIT combined. Poor nutrition and increased hospitalizations for respiratory infections in participants with SA and PCD are associated with cardiovascular malformations requiring cardiac surgery, splenic anomalies, or both. TRIAL REGISTRY: ClinicalTrials.gov; Nos.: NCT02389049 and NCT00323167; URL: www. CLINICALTRIALS: gov.

Managing Kartagener's Syndrome With Type II Respiratory Failure and Left-Sided Pneumothorax During the COVID-19 Pandemic: A Case Report.

Kartagener's syndrome is an autosomal recessive disorder with symptoms varying from chronic sinusitis to bronchiectasis and situs inversus (a congenital condition in which the visceral organs are located in an opposite location). We describe a rare and complicated case of a 40-year-old female patient who presented to the emergency room with significant chest congestion and Kartagener's syndrome. This case demonstrates the value of individualized and proactive care as well as the challenge of managing this illness, particularly when it coexists with type II respiratory failure related to pneumothorax.

Bariatric and Metabolic Surgery in Patients with Situs Inversus: a Systematic Review.

Laparoscopic surgery in patients with obesity with situs inversus (SI) may pose interesting challenges to diagnosing and managing due to the mirror image anatomy. Since in SI patient's organs are displaced, the surgery requires high levels of precision and hand-eye coordination. SI and bariatric surgery may pose challenges for the surgical team. A total of 46 patients were reported in this systematic review. The mean age of cases was ~39 years (range 19-59), and the mean BMI was 45.9 kg/m2 (range 35-76). Of the included 46 patients, 39 had SIT. In the majority of the included patients, either a laparoscopic Roux-en-Y gastric bypass (LRYGB) (in 15 patients (35%)) or a laparoscopic sleeve gastrectomy (LSG) (in 21 patients (45.6%)) was performed. Complications were documented in 3 cases.

Medical Diagnosis Reimagined as a Process of Bayesian Reasoning and Elimination.

This article delves into the interface between the art of medical diagnosis and the mathematical foundations of probability, the Bayes theorem. In a healthcare ecosystem witnessing an artificial intelligence (AI)-driven transformation, understanding the convergence becomes crucial for physicians. Contrary to viewing AI as a mysterious "black box," we demonstrate how every diagnostic decision by a medical practitioner is, in essence, Bayesian reasoning in action. The Bayes theorem is a mathematical translation of systematically updating our belief: it quantifies how an additional piece of information updates our prior belief in something. Using a clinical scenario of Kartagener syndrome, we showcase the parallels between a physician's evolving diagnostic thought process and the mathematical updating of prior beliefs with new evidence. By reimagining medical diagnosis through the lens of Bayes, this paper aims to demystify AI, accentuating its potential role as an enhancer of clinical acumen rather than a replacement. The ultimate vision presented is one of harmony, where AI serves as a symbiotic partner to physicians, with the shared goal of holistic patient care.

Primary ciliary dyskinesia diagnosis and management and its implications in America: a mini review.

Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disorder that can result in significant morbidity and mortality if left untreated. Clinical manifestations of PCD include recurrent respiratory infections, laterality defects, and infertility, all of which arise from impaired or absent ciliary motility. Diagnostic approaches for PCD may include high-speed video microscopy, measurement of nasal nitric oxide levels, and genetic testing; however, no single definitive diagnostic test exists. The present study aims to highlight the lack of standardized diagnostic and treatment guidelines for PCD in Latin America (Central and South America, and the Caribbean). To this effect, we compared North American and European recommendations for the diagnosis and management of PCD and found that certain diagnostic tools and treatment options mentioned in these guidelines are not readily accessible in many Latin American countries. Methods & Results: This review gathers disease information in North America, Europe, and Latin America organizing guideline results into tables for clarity and potential interventions. Management information for Latin America is inferred from case reports, as most findings are from North American recommendations and studies on PubMed, Google Scholar, and Scopus. Treatment and management information is based on North American and European standards.Among 5,774 publications reviewed, only 15 articles met the inclusion criteria (focused on PCD management, peer-reviewed, and located in America). No clinical guideline for PCD in Latin America was found, but recommendations on respiratory management from Colombia and Chile were discovered. The lack of guidelines in Latin America may originate from limited resources and research on the disease in those countries. Discussion: PCD lacks documentation, research, and recommendations regarding its prevalence in Latin America, likely due to unfavorable economic conditions. This disadvantage results in limited access to diagnostic tests available in North America and Europe. The PICADAR score, discussed in this review, can be used in low-income nations as a screening tool for the disorder.