PRIMARY CILIARY DYSKINESIA AND KARTEGENER'S SYNDROME

PCD/PRIMARY CILIARY DYSKINESIA AND KARTEGENER’S SYNDROME.

                PCD/Kartegener’s syndrome is a rare genetic disorder, which is characterized by defects or complete loss of ciliary action which is covering the entire respiratory tract thereby causing defective mucosal clearance.

                Cilia are small hair like structures, which are located in the respiratory tract(upper and lower), sinuses, Eustachian tube of the ear, miaddle ear and flagellas of sperms. These cilia function as a protective structures, trapping invading particles, to enter the respirtatory tract. Moreover, their chief function is swaying movement, which generate currents thereby helping in transport or expulsion of mucous towards the throat in case or respiratory tract and ear. In case of sperm cells and fallopian tube, they help in transport of sperms and cilia in fallopian tube, help in transport of ovum.

   The average movement rate or speed of cilia is 10 to 25 times per second.

                However, failure or weak movement of cilia lead to defective/poor mucous clearance, thereby giving rise to a condition called PCD or Kartegeners syndrome, which is a variant of PCD.

PRIMARY: Without any apparent cause or having genetic influence.

CILIARY: Pertaining to cilia/hair like projections covering the respiratory tract, fallopian tubes etc.

DYSKINESIA: Here I would like to break down the word into two parts, where the word ‘DYS’ means difficult/improper and ‘KINESIA’ means movement, which is suggestive of its pathophysiology. Hence, the word DYSKINESIA means improper or an irrythmic movement.

                Thus, the word PCD/PRIMARY CILIARY DYSKINESIA means improper and irregular movement of the cilia, without any specific cause/having a genetic influence. Kartegener’s  syndrome is a type of PCD which there is PCD+BRONCHIACTASIS+DEXTROCARDIA.

                                     WHAT CAUSES THESE SYNDROMES ?

                Both, PCD and Kartegener’s syndrome are originally autosomal recessive genetic disorders. To be more specific, these syndromes are caused by mutation(improper function) or two genes namely DNAI1 and DNAH5.

These genes DNAI1 and DNAH5, play a role in coding the proteins found in the outer DYEINE arm. Here, the word DYEINE refers to a specific type of a motor protein spindle, which glides on the microtubule of these hair like structures called cilia. The main function of this protein is to convert the energy stored in the ATP that is the basic chemical energy source and thereby converting it to mechanical motion and there by playing an integral part in the movement of the cilia and thereby leading to better transport and mucous clearance.

                Now, since these proteins are out of order and not working, there is no conversion of ATP energy to movement of cilia. Thus no currents are created and thus mucous is not cleared off.

To make it easier I hereby, present an image, to show the difference between normal cilia and PCD affected cilia.

                                                                                                       

(A)NORMAL CILIA DEVELOPMENT (B) CILIA WITH PCD/KAERTEGENER’S SYNDROME.                                                                                                                                                                  

                As shown in the above figure, the structures like dyiene arm, radial spoke and  central apparatus, which are the chief functional organs are improperly organized or totally abscent.

                The chief reason for production of such pathology is formation of a special type of a monocilia, which lacks the central pair of microtubules,(fig.B) which is normally present in a normal healthy ordinary cilia (fig.A),which causes a situation of rotation, due to counterbalance phenomenon, rather than beating to and fro due to the absence of cilia. This causes a left sided current generation, causing normal asymmetrical development.

                In some individuals with PCD, there may be a mutation defective development of left-to-right dyeine, locking the monocilia and causing the stoppage of flow of ciliary current, thereby causing SHH/SONIC HEDGEHOG protein to randomly move. In these situations, approx. 50 percent patients develop situs inversus or mirror image of the organs, due the aforesaid laterality, in the pathogenesis. 

                The above phenomenon may also involve heart also thereby leading to DEXTROCARDIA or MIRROR IMAGE of the heart, where there is a right sided shift of the heart, rather than left side in a normal individual. This condition is known as Kartegener’s syndrome, which is classified under PCD.

 HOW DO I KNOW WHETHER I AM SUFFERING FROMPCD/KARTEGENER’S SYNDROME?

                The symptoms depend on the area of involvement of PCD. They may be one or more from the below, but not always limited to these symptoms.

RESPIRATORY TRACT: 1) Improper cough clearance or non productive cough.

                                             2) Repeated attacks of upper or lower respiratory tract infections.

                                             3) Pneumonia solitary or recurrent.

                                             4) Fevers due to underlying infections.

                                             5) Dyspnoea or difficulty in breathing, specially during weather change and exertions.

                                             6) Loss of weight in some patients.

EAR SYMPTOMS:           1) Recurrent middle ear infections(OTITIS MEDIA)

                                            2) Recurrent pharyngitis, due to direct or indirect involvement of Eustachian tube of the ear.

                                            3) Deafness.

                                            4) Chronic infection of the ear. CSOM(chronic suppurative otitis media).

SEXUAL SYMPTOMS:   1)Infertility both in males and females.

                                               MALES: Due disfigured morphology of the sperms or lack of flagella, the sperm cells count may be normal but sperms may not be progressive.

                                                FEMALES: Cilia of fallopian tubes become non functional, leading to lack of progress of ovum causing no transport of ovum from ovary to fallopian tubes for union fertilization by sperms.

KARTEGENERS SYNDROME: 1)Bronchiactasis

                                                        2)Dextrocardia, and sometimes tachycardia

                                                        3)Ciliary dyskinesia.

                                                                                                                                                                                               WHAT ARE THE INVESTIGATIONS TO BE DONE?

1)  First of all basic test like cbc and E.S.R may reveal some abnormalities like increase in the WBC cell count, specially polymorphs, suggesting acute infection or lymphocytes, suggesting chronic infection. E.S.R may be raised.

2)  Imaging test like X-rays and MDCT may reveal the presence of bronchiectasis and a retrograde cardiac shadow suggesting dextrocardia which may lead an intelligent physican to diagnosis of kartegener’s syndrome.

3)  Clinical correlation with the above test is always necessary.Detailed and meticulous history of the patient may indicate early dyspnea.

4)  Relatively uncommon test like nasal nitric oxide levels and light microscopy to detect beating cilia may also be proposed.

                      WHAT IS THE FUTURE OF THIS DISEASE IN HOMEOPATHY?

                         Homoeopathy has a great effect in ameiliorating this disease to a signicant extent, not only by just reducing the persons quality of life, but also helpin him to restore himself physically and mentally. In my practice, I have come across cases of Kartegeners syndrome, out of which some improved significantly with only homoeopathy and some with multi-disciplinary approach, which is suggestive of a good future of such patients, in homoeopathy.

I hereby am putting up one of my cases of kartegener’s syndrome.

                        A 45year old male Mr.A.  with a lean built and wheatish complexion came to my clinic with the following symptoms.

1)      Chronic cough which continued for years, not getting better by any meausures. He suffered relapses and remittance since long.

Character of cough: Very explosive type of dry cough, mimicking that of whooping cough, which was more towards the evening. The cough was associated with difficult breathing. Cough was worse in the morning with very scanty expectoration which came out after a great  effort, usually the color of the sputum was yellowish.

Duration of cough: The cough and dyspnea were quite long standing, almost for more than 12 years. He experienced the cough since the year 2005, and dyspnea started in the fall of the same year.

Associated symptoms: Steady weight loss with loss of appetite and flatulent complaints were marked. Continuous cough and dyspnea caused loss of sleep. Occasional coryza.

Addictions: Tobacco and occasional alcohol which he used to consume earlier but now does not consume alcohol.

On examination: On inspection of the chest, one side of the chest was not found expanding (which arouse a suspicion of lobar collapse)

                              On palpation, apex beat was very rapid and shaking literally shaking the patient through his chest.

                              Percussion with cupped hand, indicated dullness suggesting collapse

                              Auscultation indicated unilateral rattling and wheezing.

Appetite: Reduced.

Thirst : Increased.

Bowels : irregular and constipated.

Pulse: tachycardia(++) 120bpm

Drug history: Broad spectrum antibiotics and antipyretics, occasional steroid use, nebulisers and rotocaps.

Disease history: tuberculosis.

Surgical history: lobectomy following tuberculosis.

Family history: nil.

Investigations:

1)      Repeated complete blood count over years indicating leukocytosis. Both PMN and Lymphocyted increased. Raised E.S.R.

2)      Xray chest indicated dextrocardia.  

3)      Mdct confirmed cystic type of bronchactasis, with associated findings of lobar collapsed, tracheal deviation and pulmonary fibrosis

4)      Ecg, which showed SVT.

5)      Oxygen levels reached around 87-88 %.

                                After attaining every details, homoeopathic constitutional was given alongwith his other medications, after which the man improved drastically. His coughing reduced, he had a peaceful sleep, expectorations became easy. Now, he experienced breathing troubles only during exertion.

                                His blood reports improved significantly, and to my surprise,the lobar collapse and tracheal deviation were also not seen in his follow up. Appetite also increased to a great extent. And overall improvement was also much satisfactory both to the me and to the patients.

Hence we can prove the efficacy of homoeopathy in such disorders.