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Acute Appendicitis in Patients with Kartagener Syndrome.

ABSTRACT: Situs inversus totalis is a congenital syndrome characterized by a total left-right transposition of all abdominal and thoracic organs. It may be associated with chronic respiratory conditions such as sinusitis and bronchiectasis, composing the Kartagener syndrome. If not detected, this condition may compromise the early diagnosis of surgical emergencies such as cholecystitis and appendicitis. A rare case of appendicitis in a patient with Kartagener syndrome is here reported.

SUBMITTER: Cembraneli PN

PROVIDER: S-EPMC7063213 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Acute Appendicitis in Patients with Kartagener Syndrome.

Cembraneli Pedro Nogarotto PN Ambrogi Gabriel G Cavalcante Julia Brasileiro de Faria JBF Raphe Raphael R Luporini Rafael Luís RL

Case reports in surgery 20200227

Situs inversus totalis is a congenital syndrome characterized by a total left-right transposition of all abdominal and thoracic organs. It may be associated with chronic respiratory conditions such as sinusitis and bronchiectasis, composing the Kartagener syndrome. If not detected, this condition may compromise the early diagnosis of surgical emergencies such as cholecystitis and appendicitis. A rare case of appendicitis in a patient with Kartagener syndrome is here reported. ...[more]

PMID: 32181046

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Retinal pigment epithelium changes in Kartagener syndrome.

Project description:PurposeWe present the first case in the literature of a patient with Kartagener syndrome and ocular findings of nonexudative age-related macular degeneration.ObservationsA 55-year-old woman with Kartagener syndrome and chronic angle closure glaucoma presented for evaluation of the retina. Optos ultra-widefield imaging of the fundus showed glaucomatous cupping, drusen, and retinal pigment epithelium changes within the macular region. Humphrey visual field testing confirmed glaucomatous changes. Drusenoid pigment epithelial detachments were observed bilaterally with optical coherence tomography.Conclusions and importanceWe hypothesize that in addition to the lungs, spermatozoa and the Fallopian tubes, the retinal pigment epithelium may also be affected by ciliary dysfunction in individuals with Kartagener syndrome. Given recent advances in our knowledge of retinal ciliopathies, further studies are needed to understand how ciliary dysfunction affects the retina in Kartagener syndrome.

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Project description:We herein report the case of a 36-year-old woman with Kartagener syndrome (KS), which is an autosomal recessive disorder defined by a triad of bronchiectasis, sinusitis, and situs inversus, with complications of asymptomatic microhematuria and proteinuria. She was finally diagnosed with biopsy-proven immunoglobulin (Ig) A nephropathy. KS constitutes a subgroup of primary ciliary dyskinesia (PCD) characterized by structural and/or functional ciliary abnormalities resulting in sinopulmonary involvement with varying severity. Our case does not allow us to corroborate the clinical impact of KS and/or PCD as a pathogenic basis for the IgA nephropathy, and each disease might develop independently. However, systematic studies on this topic are quite lacking, so we strongly recommend the accumulation of more cases similar to our own, which would allow us to clarify the nature of this disease state more precisely.

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Clinical and Genetic Analysis of Children with Kartagener Syndrome.

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Transcription profiling of human acute appendicitis

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Conservative treatment of acute appendicitis.

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Endoscopic retrograde appendicitis therapy versus laparoscopic appendectomy for uncomplicated acute appendicitis.

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