BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
CONCLUSIONS: 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.

BACKGROUND: To analyze clinical and imaging features, ciliary structure and family gene mutation loci of a primary ciliary dyskinesia (PCD) boy with a dual-allele heterozygous mutation of DNAH5.
METHODS: Clinical data of the proband and relatives. Electronic bronchoscopy, transmission electron microscope (TEM) of the cilia and next-generation sequencing (NGS) were performed. PCD-related DNAH5 exon mutation sites were searched.
METHODS: A 10-year and 10-month-old boy was hospitalized due to \"recurrent cough, expectoration, sputum and shortness of breathing after activity for over 7 years, and aggravated for 1 week.\" Moderate and fine wet rales were detected in bilateral lungs. Clubbing fingers and toes were observed. In local hospitals, he was diagnosed with Mycoplasma pneumoniae infection and Streptococcus pneumoniae was cultured.
METHODS: Pulmonary function testing showed mixed ventilation dysfunction and positive for bronchial dilation test. Imaging examination and fiberoptic bronchoscopy revealed transposition of all viscera, bilateral pneumonia, and bronchiectasis. TEM detected no loss of the outer dynein arms. NGS identified 2 mutations (c.4360C>T, c.9346C>T) in the DNAH5 gene inherited from healthy parents.
RESULTS: According to literature review until 2022, among 144 exon gene mutations causing amino acid changes, C>T mutation is the most common in 44 cases, followed by deletion mutations in 30 cases. Among the amino acid changes induced by gene mutation, terminated mutations were identified in 89 cases.
CONCLUSIONS: For suspected PCD patients, TEM and NGS should be performed. Prompt diagnosis and treatment may delay the incidence of bronchiectasis and improve clinical prognosis.

暂无摘要。

Primary ciliary dyskinesia (PCD) is a genetic disease characterized by motile cilia dysfunction, mostly inherited in an autosomal recessive or X-linked manner. We herein report a 29-year-old woman with PCD caused by a heterozygous frameshift mutation due to a single nucleotide deletion in exon 3 of FOXJ1. Heterozygous de novo mutations in FOXJ1 have been reported as an autosomal-dominant cause of PCD. The patient had situs inversus, congenital heart disease, infertility, and hydrocephalus. However, the nasal nitric oxide level was normal. Long-term macrolide therapy was remarkably effective. This is the first case report of PCD caused by a FOXJ1 variant in Japan.

BACKGROUND: Kartagener syndrome (KS) is recognized as an inherited, autosomal recessive disorder characterized by a combination of chronic sinusitis, bronchiectasis, and situs inversus. It affects one in 12,500-50,000 live births worldwide.
OBJECTIVE: This paper aims to discuss the dental management of patients diagnosed with KS.
METHODS: A 31-year-old male with KS manifests by impaired cilia motility which increases the risk of a frequent lung infection. The dental examination revealed that the patient required comprehensive oral hygiene care which included patient education and nonsurgical periodontal therapy under local anesthesia.
CONCLUSIONS: Dental care providers should ask affected patients with KS about their signs and symptoms of cardiac and pulmonary disease and seek consultation with their attending physician regarding these health concerns before the initiation of general anesthesia and perhaps conscious sedation administration. Patients with KS with emerging cardiac and/or respiratory impairment should be referred promptly for medical assessment.

暂无摘要。

BACKGROUND: Primary ciliary dyskinesia (PCD) is typically an autosomal recessive disease characterized by recurrent infections of the lower respiratory tract, frequent and severe otitis media, chronic rhinosinusitis, neonatal respiratory distress, and organ laterality defects. While severe lower respiratory tract infections and bronchiectasis are common in Inuit, PCD has not been recognized in this population.
METHODS: We report a case series of seven Inuit patients with PCD identified by genetic testing in three Canadian PCD centers.
RESULTS: Patients ranged from 4 to 59 years of age (at time of last evaluation) and originated in the Qikiqtaaluk region (Baffin Island, n = 5), Nunavut, or Nunavik (northern Quebec, n = 2), Canada. They had typical features of PCD, including neonatal respiratory distress (five patients), situs inversus totalis (four patients), bronchiectasis (four patients), chronic atelectasis (six patients), and chronic otitis media (six patients). Most had chronic rhinitis. Genetic evaluation demonstrated that all had homozygous pathogenic variants in DNAH11 at NM_001277115.1:c.4095+2C>A.
CONCLUSIONS: The discovery of this homozygous DNAH11 variant in widely disparate parts of the Nunangat (Inuit homelands) suggests this is a founder mutation that may be widespread in Inuit. Thus, PCD may be an important cause of chronic lung, sinus, and middle ear disease in this population. Inuit with chronic lung disease, including bronchiectasis or laterality defects, should undergo genetic testing for PCD. Consideration of including PCD genetic analysis in routine newborn screening should be considered in Inuit regions.

A 30-year-old woman presented with history of primary infertility of 8 years and multiple failed intrauterine insemination (IUI) attempts. She had the classic symptoms of Kartagener\'s syndrome-situs inversus, chronic sinusitis, and bronchiectasis. She had polycystic ovarian disease (PCOD) with regular menstrual cycles. Her karyotyping was normal. There was no other significant history including surgeries and the marriage was non-consanguineous. Her partner was 34 years old with normal semen and hormonal parameters. Her first intra-cytoplasmic sperm injection (ICSI) cycle with her own oocytes and husband\'s sperm resulted in a pregnancy but she suffered a miscarriage at 11 weeks. Her second attempt with donor oocytes and husband\'s sperm resulted in a pregnancy again but she miscarried at 9 weeks. The third attempt with a frozen embryo transfer with supernumerary embryos resulted in a pregnancy and she delivered a live female baby who was followed up for 8 years. This is the first report of a patient with KS undergoing assisted reproduction technologies (ART) treatment with donor oocytes. This is also the first Indian report of a female KS patient undergoing ART treatment with donor oocytes. IUI may not be the ideal treatment option in female patients with KS.

A congenital pulmonary airway malformation (CPAM) combined with primary ciliary dyskinesia (PCD) has not been described in literature. Herein, we described the case of a 4-year-old boy who presented to us with recurrent productive cough and rhinorrhea for 2 years. High resolution computed tomography of the thorax revealed multiple, cystic, transparent shadows of different sizes near the posterior thoracic cavity in the lower lobe of the left lung. Thoracoscopic segmentectomy was carried out and histology confirmed a type II CPAM. Whole-exome sequencing revealed a compound heterozygous mutation (c.10568+1G>A, c.9484delG) in the DNAH11 gene associated with PCD that originated from the boy\'s mother and father, respectively. This report showed that when a child with CPAM presents with a productive cough and recurrent sinusitis, irrespective of situs inversus, PCD should be suspected. Genetic testing can aid in diagnosis.

The tracheal bronchus in Kartagener syndrome is a rare case that may cause difficulty in one-lung ventilation (OLV). Here we reported a case of successful OLV using bronchial blocker in a patient with tracheal bronchus and Kartagener syndrome (KS).
A 66-year-old female patient with Kartagener syndrome was admitted for left-side diaphragmatic plication. The patient\'s preoperative computed tomography image showed a tracheal bronchus of the apical segment in the right upper lobe. The patient received epidural analgesia and general anesthesia through total intravenous anesthesia. An EZ-Blocker® (Teleflex Life Sciences Ltd., Ireland) was used to perform OLV.
OLV through an EZ-Blocker® can be successfully performed in tracheal bronchus patients with Kartagener syndrome without side effects.