Kartagenerís Syndrome

 

Annotated Bibliography

 

Amy Church

 

 

 

Veerman, AJ; Van Delden, L; Feenstra, L; Leene, W. 1980. The Immotile Cilia Syndrome: Phase Contrast Light Microscopy, Scanning and Transmission electron microscopy. Pediatrics. 65(4): 698-702.

 

In immotile cilia syndrome, electron microscopy shows abnormal arrangement of tubules.This study used four nonrelated children,9/12,5, 6, and 6 years old, with Kartagenerís syndrome.Also four children in the same age group and with the same history, but without Kartagenerís syndrome.Under the phase contrast microscope no motile cilia were seen in the four patients with Kartagenerís syndrome and two of the four other children.It was also shown under the electron microscopy that patients with Kartagenerís syndrome had and absence of dyneimarms.Scanning electron microscopy revealed differences in morphology and arrangement of cilia between patients and controls.Patients had much more mucus than controls.Also, the cilia were in a state of disorder compared to the controls.

 

 

 

Kay, VJ; Irvine, DS.January 2000.Successful in-vitro fertilization pregnancy with spermatozoa from a patient with Kartagenerís syndrome. Human Reproduction. 15(1): 135-138.

 

This paper is about in-vitro fertilization of a couple in whom the male partner had Kartagenerís syndrome.His spermatozoa were severely asthenozoospermic with deficient dynein arms and disordered microtubular configuration.Sperm analysis displayed straight non-progressive motility with minimal amplitude of lateral head displacement and none were hyperactivated. This in the first case in which a man with immotile cilia syndrome (ICS) have been shown to be able to penetrate the zona pellucida and fertilize oocytes.In-vitro fertilization maybe a suitable treatment for certain males with Kartagenerís syndrome.

 

 

 

Baum, G; Zwas, S; Katz, I; Roth, Y.September 1990. Mucociliary Clearance from Central Airways in Patients with Excessive Sputum Production with and without Primary Ciliary Dyskinesia. Chest. 98(3): 606-613.

 

The mucus lining and cilia, are little hairs that cover the respiratory tract.These hairs prevent particles from entering the respiratory tract.If these particles are not removed, irritation or inflammation could occur.Inflammatory diseases such as bronchiectasis and cystic fibrosis, the relationship of impaired ciliary beating and mucociliary clearance to lung dysfunction in not clear.Mucus clearance depends on factors besides ciliary function.A new method has been developed which measures the rate at which mucus moves through the windpipe (TMV).To determine the relationship between mucociliary clearance, ciliary function, and lung dysfunction.Seventeen patients were evaluated for TMV and ciliary beating.Four of the patients had Kartagener's syndrome (KS).A fifth patient had a similar ciliary defect as the KS patients.The remaining 12 patients had bronchiectasis or cystic fibrosis.Results of the study were compared with those obtained from 18 healthy subjects.Patients without ciliary dysfunction cleared mucus more rapidly than the healthy subjects. Patients with KS cleared mucus significantly more slowly.This is important because patients with normal cilia respond to increased mucus by moving faster.Also, people with KS still have the ability to move mucus in spite of defective cilia.This could be from the smooth muscles in the airway that contributes to mucus clearance.The initial results showed that the primary function of cilia may be to organize mucus.Also the results showed that cilia were capable of beating to some extent in some patients.

 

 

 

Smit, H; Schreurs, A; Vanden Bosch, J; Westermann, C.June 1996.Is Resection of Bronchiectasis Beneficial in Patients with Primary ciliary Dyskinesia? Chest. 109(6): 1541-1545.

 

A Study of 21 patients with (PCD) primary ciliary dyskinesia was done.Thirteen had bronchiectasis and eight did not.Respiratory symptoms were the same in both groups.Eighty five percent of surgical patients with PCD considered the operation beneficial.In the past, bronchiectatic segments were usually resected.As the underlying disorder was clarified the indication for resection was disputed, because PCD itself cannot be treated but in a palliative way.No prospective studies about this problem are available nor are to be expected soon, because of the rarity of the disease and the length of time required for such studies.

 

 

 

Condaads, V; Galdermans, D; Knokx, M; Jacob, W; Schaardenburg, C; Coolen, D. November 1992. Ultrastucturally Normal and Motile Spermatozoa in a Fertile Man with Kartagenerís Syndrome. Chest. 102(5): 1616-1618.

 

This Study found a 40 year old man with Kartagenerís.It was revealed that this man had normal ultrastructure of the axoneme in both respiratory cilia and sperm tails.Motility was evaluated, spermatozoa showed 50 percent, suggesting normal fertility.This assumption is confirmed, as the patient has two children.It was suggested that an abnormal, motility pattern of the cilia results in improper mucociliary clearance.This coordination is not needed in swimming spermatozoa.This could explain the paradox between bronchopulmonarysymptoms and normal fertility in the patient. As further investigations have revealed other ultrastructural defects donít necessarily lead to immotility, but rather to abnormal motility patterns.Because the new concept no longer covers the entire range of defects a new term was coined, ďprimary ciliary dyskinesiaĒ.

 

 

 

Kinney, T; Delur, S. July 1991. Kartagenerís Syndrome. American Family Physician. 44(1): 133-134.

 

Kartagenerís Syndrome (KS) is a disorder characterized by the inability of the cilia, the hair like projections, to move.The cilia project from the layer of cells on the surface of the sinuses, nose and inner ear.Also, the brain ventricles, and tube like passages within the female and male genital tracts.These hair like projections function to sweep away mucus, pus, and just particles.The inability of cilia to move results in inadequate clearance of bacteria from the passages, resulting in an increased risk of infection.Another result of inability of cilia to move is infertility.This is the result because sperm use cilia to move.Katagenerís syndrome consists of three conditions, including situs inversus, the abnormal displacement of abdominal organs; chronic sinusitis, and bronchieclasis.Patients with KS have symptoms of chronic inflammation of the nasal passages, bronchiectasis, impaired smell, and infertility.A birth defect associated with KS is transposition of the great vessels.The incidence of KS ranges between 1 in 20,000 and 1 in 68, 000 with treatment patients with KS can reduce symptoms and delay the progression of the disease.Antibiotics may be used to treat the infections and inflammation of the airways.Another treatment used is the surgical removal of portions of the lung.This is a treatment for reoccurringpneumonia.

 

 

 

Perraudeau, M. February 1994. Late Presentation of Kartagenerís Syndrome: Consequences of Ciliary Dysfunction. British Medical Journal. 308(6927): 519-521.

 

Kartagenerís Syndrome (KS) has symptoms such as chromic sputum producing cough.It also caused inflammation of the sinceses, runny nose and transposed internal organs.KS is a respiratory tract disease usually diagnosed during childhood.This disease is associated with a lack of ciliary function.Cilia are found in the respiratory tract and are hair like projections.The case of a 48 year old man with sputum producing cough, night sweats and left-sided chest pain is discussed.The patient was a smoker and a history of chest infections.He reported having the cough for four months.An x-ray revealed a side to side transposition of this organs. The x-ray also indicated that he had pneumonia.Streptococcus pneumonia was cultured and a CT scan showed evidence of bronchial wall destruction.The patient was diagnosed with Kartagenerís syndrome.

 

 

 

LeMauviel, L. 1991. Primary Ciliary Dyskinesia. The Western Journal of Medicine. 155(3): 280-284.

 

Cilia are small hair-like projections found on many organs of the body.They are made of thin thread-like structures called microtubules.These microtubules allow the cilia to move back and forth, this motion is essential for removing or clearing mucous and dust particles.Sperm also contain a microtubules in their tails. A hereditary disorder called Kartagenerís syndrome or ciliary dyskinesia is caused by a structural defect in the microtubules.Therefore, people with Kartagenerís syndrome are vulnerable to recurrent bronchitis, pneumonia, colds, and middle ear infections.This syndrome also results in immobility of sperm, which leads to reduced fertility or infertility,It is estimated that Kartagener affects 1 out of every 15,000 to 30,000 people.There are several simple and inexpensive screening tests available for diagnosing Kartagenerís syndrome.Saline Solutions in one of the ways to improve the clearance of mucous from the sinuses and lugs.Diagnosis and treatment of Kartagener is important because it can lead to serious infections.For some patients, antibiotics may be helpful as a preventive measure.

 

 

 

Guichard, C; Haricane, M; Lafitte, J; Godard, P; Zaegel, M; Tack, V; Lalau, G; Bouvagnet, P. April 2001. Axonemal Dynein Intermediate-Chain Gene(DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome). American Journal of Human Genetics. 64(4): 1030.

 

 

Kartagenerís syndrome (KS) has three major symptoms, nasal polyps, bronchiectasis, and situs inversus totalis.These symptoms are associated with abnormal cilia of epithelial cells that cover the upper and lower respiratory tracts.The axonemal dynein intermediate chain gene, which has been demonstrated to be responsible for a case of primary ciliary dyskinesia ( Kartagenerís syndrome). Patients with KS were screened for mutation.It was identified DNAI1 gene defect in three patients and in two of their siblings who presentedwith KS syndrome.Five patients shared one mutant allele.Finally, this study demonstrates a link between ciliary function and situs determination, since DNAI1 gene results in Kartagener syndrome.

 

 

 

Reidy, J; Sischy, S; Barrow, V. 2000. Anesthesia for Kartagenerís Syndrome. British Journal of Anesthesia. 85(6): 919-921.

 

Kartagenerís syndrome is a hereditary syndrome involving a combination of situs inversus, bronchiectasis and sinusitis, transmitted as an autosomal recessive trait.In this study a patient is described who had three anesthetics over a period of a few months.The main ideal is anaesthetic consideration in Kartagenerís syndrome and to recent findings relating to the molecular mechanisms of left right development.