Treatment of cystic fibrosis,now available for children,Dr. Deo Kumar Jha, M.D.,Pediatrician and Pulmonologist,Ghaziabad,Delhi and NCR

Treatment of cystic fibrosis,now available for children,Dr. Deo Kumar Jha, M.D.,Pediatrician and Pulmonologist,Ghaziabad,Delhi and NCR

Cystic fibrosis is a genetic disease with Autosomal recessive pattern.

It is more commonly seen in children born out of consanguineously married couples

It was considered a diagnosis of  children from western countries,till Dr Sushil Kumar Kabra,from AIIMS,New Delhi made the diagnosis,approachable and affordable,by developing  an indegenous instrument to measure the sweat chloride level ,essential for the diagnosis of cystic fibrosis in children.

It primarily affects respiratory systems ,gastrointestinal system and genitourinary system.

The primary pathology is mutation of CFTR gene ,responsible for transport of electrolytes which carry water with it across the cell membrane.

The mutation,causes the secretions in respiratory tract ,gastrointestinal tract and genitourinary tract,very thick.

The sufferer,gets difficulties in clearing secretions from the respiratory airways,bacteria get stuck in the thick secretions and the child develops repeated episodes of cough,visits many clinicians with very little benefits,till the final diagnosis of cystic fibrosis is made at the centre with expertise in CF (Cystic fibrosis). Chest X-Ray at initial stage shows only bilateral hyperinflation which is easily confused with asthma.

As per the gastrointestinal system,initially there is frequent watery diarrhoea,and later on constipation and intestinal obstruction popularly known as meconium ileus equivalent occurs in older children. Some children may be born with intestinal obstruction ,called meconium ileus.

Adults may suffer from infertility due to absence of vas deference in male and tube blockage in female .

The diagnosis is based on sweat chloride analysis,and mutaion analysis.

The most common mutation is seen on delta 508 F location of gene,all over the world.

The only option for the treatment till recent years was supportive therapy, in the form of enzyme LIPASE with meals,hypertonic saline inhalation to make the respiratory secretions thin,and chest physiotherapy to induce cough and taking out the pulled secretions to make airways clean. Inhalational steroids to subside the airways inflammation and keep it in control and antibiotics to treat and prevent respiratory tract infections,known in this case as pulmonary exacerbation due to infections..

In the past few years,there have been many multicentric research which gave  the medicines that regulate CFTR gene.

In a study on 506 children aged 12 years or more,ELEXACAFTOR 200mg,IVACAFTOR 150mg and TEZACAFTOR 100 mg were given 12 hourly for 144 weeks.

At the end of 144 weeks, there was significant improvement in lung functions in the form of mean rise of 14.1% in FEV1 and marked decrease in pulmonary exacerbation,0.2 per year only.

The BMI went up with mean increase of 1.61 kg/metre square.

Cystic fibrosis questionaire was also also improved.

There was marked improvement in symptoms.

Adverse effects were moderate and the main adverse effect was infective Pulmonary exacerbation,followed by cough ,headache,oropharyngeal pain and nasopharyngitis

This therapy is popularly known as triple therapy or ETI therapy.

This is very costly therapy but safe and effective with its limitation of availability.

Dr Deo Kumar Jha,M.D., Pediatrician and Pulmonologist,Ghaziabad,Delhi and NCR,www.childandchestdoctor.com,You Tube channel-Dr Deo Kumar Jha

REFERENCE: Daines CL, et al. Eur Respir J. 2023;doi:10.1183/13993003.02029-2022:

 

DUPILUMAB, EFFECTIVE TREATMENT FOR ASTHMA IN CHILDREN,Dr Deo Kumar Jha ,M.D,Pediatrician and Pulmonologist,Delhi-NCR

When asthma is not controlled even on high dose inhalational corticosteroids with other controller with or without oral corticosteroids,it is called severe therapy resistant asthma(STRA).

If the child is diagnosed with type 2 airway inflammaton, biologics are the choice in these scenario.

There are so many biologics in the market but few are approved for children.

According to a study on 408 children with the mean age of 8.9 years ,Dupilumab was found to be consistently effective and safe.

Dupilumab was used as an injection by subcutaneous route.

It was given in the dose of 100mg,twice in a week for children equal to or less than 30  kg of weight.

For children more than 30 kg of weight ,the dose was 200 mg biweekly.

According to the study protocol,the dose was increased to 300 biweekly in children equal to or less than 30 kg of weight in mid study period.

The treatment was given for a period of 52 weeks.

At the end of the study period, common adverse effects were nasopharyngitis in 9%,pharyngitis in 6%, upper respiratory infection in 8% and eosinophilia in 3 %,

Serious adverse effects were seen only in 7 children

This study concluded that ,Dupilumab  decreased the level of type 2 inflammatory biomarkers like level of serum IgE and blood eosinophils significantly.

It also concluded that ,this is the only biologic agent which reduced the number of asthma exacerbations as well as consistently and significantly improved lung function as measured by spirometry in the form of significant improvement in FEV1.

REFERENCES:

Bacharier LB, Maspero JF, Katelaris CH, et al. Assessment of long-term safety and efficacy of dupilumab in children with asthma (LIBERTY ASTHMA EXCURSION): an open extension study,Lancet Respir Med. Published online November 10, 2023. doi:10.1016/S2213-2600(23)00303-X

 

Tonsil removal for improvement in behaviour of children,Dr Deo Kumar Jha,MD.Pediatrician and Pulmonologist,Delhi-NCR

Sleep disordered breathing(SDB) is a common problem in children.

It has been ignored for years till there has been a facility to diagnose it.

Now,there is a facility for early detection of this common problem by a test called polysomnography.

Enlargement of tonsils and adenoid are the main cause of this disorder in children

The main cause of enlargement of tonsil and adenoids for a prolonged period of time is ALLERGY.

Parents are usually not aware of this problem in their children.

The common symptom is snoring in child with frequent disturbances of sleep.

It is graded by hypoapnea/apnea index(HPI) on polysomnography.

The child gradually develops behavioral changes,attention deficit,cognitive problems,day time sleepiness and later on hypertension.

There are two modes of treatment ,one is watchful observation and second is removal of tonsil.

Study  was done on 458 children of the mean age of 6 years.

At the end of 12 months of follow up 394(86%),children were available.

It was observed that there was no significant difference between the two groups for the cognitive function.

There was a significant improvement in day time sleepiness and behavioral problems in the group who underwent adenotonsillectomy(surgical removal of adenoid and tonsil) ,moreover,the quality of life were better in the group who opted for the surgical removal of adenoid and tonsil.

CONCLUSION: In case of mild sleep disorderd breathing ,adenotonsillectomy is not advisable for improvement in attention deficit or cognitive problem.

REFERENCES:

Tonsil, adenoid removal improved sleep quality, some behavioral problems in children with mild sleep apnea. https://www.newswise.com/articles/tonsil-adenoid-removal-improved-sleep-quality-some-behavioral-problems-in-children-with-mild-sleep-apnea. Published Dec. 5, 2023. Accessed Dec. 5, 2023.

Is my child suffering from Asthma,Dr Deo Kumar Jha,MD. Pediatrician and Pulmonologist,Ghaziabad,Noida,Delhi-NCR

Know the fact, directly from expert-Dr.Dev,Child and child chest specialist

Is your child facing repeated episodes of cough-Yes/No

Is the cough more problematic during night-Yes/No

Is the cough more problematic while child is playing-Yes/No

Is the cough more problematic when the child eats or drinks cold items-Yes/No

Is the child facing shortness of breath/difficulty in breathing repeatedly-Yes/No

Is your doctor,preferring to nebulise the child more frequently-Yes/No

Is your child facing more cough and or shortness of breath while season is changing-Yes/No

Is your child having itchy skin rashes any time,in addition to cough and shortness of breath-Yes/No

Is your child having itchy nose,frequent running nose,stuffy nose,nose block more frequently in addition to cough and shortness of breath-Yes/No

Is your child takes more time for the recovery of cough and cold than other children-Yes/No

Is your child having cough and shortness of breath when there is no running nose or sneezing-Yes/No

Is any family member whether he or she lives with the child or does not live with the child ,facing symptoms of any kind of allergy-Yes/No

If the answer of most of the questions are YES, there is  maximum probability that, your child is suffering from ASTHMA

Asthma is not a disease to be scared of but should be accepted and then appropriate treatment should be given to the needy child.

Asthma is one of the most common chronic disease of respiratory tract in children.

It affects 10%-30% children worldwide.

It is the most common cause of frequent school absenteeism for children.

It affects mental and physical health of children.

It gives financial burden to the family

After appropriate treatment there is negligible school absenteeism,no challenge to the physical and mental health of child and financial burden to the family is significantly reduced.

Dr Deo Kumar Jha,

MBBS(Gold Medalist)

MD(Pediatrics)

Fellowship in Pediatric Pulmonology,AIIMS,New Delhi

Winter depression in children,Dr Deo Kumar Jha,MD. Pediatrician and Pulmonologist,Ghaziabad,Delhi-NCR

Depression is a state of mind in which the mood of a person is very low and the person is not interested in surrounding and any activities which gives him or her pleasure, to the extent that disturbs his or her normal works.

This is known as affective disorder  in Psychiatry or mood disorder.

When it occurs for a particular season in year ,it is referred as to seasonal affective disorder-SAD

This disorder is in increasing trends in last 1-2 decades due to various reasons,in children.

The extreme form of this disorder urges a person to commit suicide.

It should be recognised early and addressed properly to keep the potency of a person at normal level.

It has been observed that ,children are particularly at risk to develop this disorder due to stressful family environment.

Vitamin D deficiency is a contributory factor to develop this disease entity ,

In the last few decades ,in India,children have been observed to be busy in indoor activities and more in screen activities.

On the one hand,this indoor confinement leads to less sun exposure and on the other hand the contents of screen may be depressive

In winter season ,naturally there is less time when there is sunlight, in which children can be exposed while playing.

Adequate vitamin D synthesis in the body occurs when skin is exposed to sunlight.

It has been observed that in winter season ,the level of serotonin is less in the body and melatonin balance is also disturbed.

These lead to increased symptoms of depression.

Sun exposure between 10 am to 3 pm is most effective for vitamin D synthesis from ultraviolet B light

 

Dr Deo Kumar Jha,

MBBS(Gold Medalist)

MD(Pediatrics)

Fellowship in Pediatric Pulmonology,AIIMS New Delhi

Pediatrician and Pulmonologist,Ghaziabad Delhi-NCR

Depression and financial instability of Parents-more asthma symptoms in children,Dr Deo Kumar Jha,MD.Pediatrician and Pulmonologist,Delhi-NCR

Asthma is the most common chronic respiratory disease in children.

It is responsible for significant days of school absenteeism.

It gives financial burden to the family by frequent visits to OPD and emergency department.

Child has to spend many sleepless nights during the period of symptoms.

It also disturbs the sleep of parents and the whole family.

Sleepless nights leads to decrease in work efficiency of child and parents.

According to the first study of its kind on 3900 Australian children,between the age of 1-15 years,the researcher observed that ,wheezing episodes in children with stressed parents were far more than the children with parents having no stress or negligible stress.

Specifically they observed that the wheezing episodes were 77% more in children of parents leading a stressful life with moderate to severe stresses, 55% more in children with mother having depression and 40% more in children with parents facing financial hardships.

Environmental factors which trigger asthma are well known in the form of pollutants,allergens,environmental tobacco smokes which are modifiable.

Depression and anxiety in children are also known to trigger asthma.

But Psychosocial factors, like parental stress due to workload or career making,depression and anxiety in parents, and financial hardships faced by parents are less recognised or ignored factors which may trigger symptoms of asthma.

 

In the care of asthmatic children, psychosocial factors should be addressed so as to control the symptoms of asthma

REFERENCES:

Shahunja KM, Sly PD, Mamun A. Trajectories of psychosocial environmental factors and their associations with asthma symptom trajectories among children in Australia. Pediatric Pulmonology. 2023:ppul.26733. doi: 10.1002/ppul.26733

Facts of inhaler medications-Dr Deo Kumar Jha,MD. Pediatrician and Pulmonologist,Delhi-NCR

Advantages of inhaler medications

ROUTES– This medicine goes through the direct routes ,to a site where its action is required unlike oral medications ,which enters the mouth then goes to stomach,then abosrbed in stomach and enters the blood and the blood takes it to the site where it has to work.So ,any hidrance in the path can lower the amount of drug,whereas in case of inhalational route ,there is little chance of hindrance in delivery of drug.

DOSE– Inhalational medications come in microgram which is invisible to the naked eyes,unlike oral medications, which comes in miligram and in the form of tablets or syrups which anyone can see and the quantitiy is 1000 times more than the inhalational medicines for the same action.

Onset of Action-inhalational medicines starts working within minutes unlike oral medicines which may take an hour to start action

Adverse/Side effects- Since,the quantity of inhalational medicines are very very less and it goes directly to the target site,its adverse effects are almost nil even on long time use

MYTHS- There is a false belief that inhalational medicines cause addiction and patient will always require it and can not remain without it. It is baseless belief as the medicines in inhalational routes are the same as in oral medicines and it is not going to make a patient addicted to it. The need and duration of therapy depends on the severity of the disease

THE DEVICE 

1.If spacer with valve is used with or without mask,the drug delivery into the target site is approximately 20% and depostion over the throat is about 10-20%

2. If only MDI is used without spacer the drug delivery is only approximately 10% to the target site and almost 50% gets deposited over the throat

3. In cases of use with nebulizer the drug delivery to the target organ is between 1-5% and 50-60% get deposited over the throat

4. In cases of rotahaler, only 1-5% drugs goes to the target site and almost 60% get deposited over the throat

CONCLUSION– 1.Inhalational medications are better than oral medications for long term use 

2. Only MDI should  not be used directly.It should always be combined with appropriate spacer/ holding chamber