JNUH

Cystic Fibrosis

An absomal recessive disorder which occurs due to mutation of CFTR gene mainly affecting the lungs & pane-areas.
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  • Passing of motosed CFTR gere (ajstic fibrosis traramembrane conductance regulator)
  • If single mutated copy passed
  • PT both passed mutated
  • Carrier
  • CYSTIC FIBROSIS
  • Bowel obstruction in children.
  • Sinusitis presents as facial pain, fever, headache, nasal diagnose
  • Nose polyps
  • Frequent lung injections
  • Trouble breathing
  • Cystic fibrosis related diabetes due to damage to panoeas pancreatitis)
  • Osteoporosis mal absorption of calcium & vitamin D
  • Digestive problems mal absorption of Vitamin A,D,E,k
  • Steatorrhoea
  • Infertility
  • Coogulations disorders
  • Couple can get tested for CFTR gene.
  • During pregnancy testing can be performed (choriortic villus sauepling) amniocantentehsis can bed on.
  • In fetuses having Anemia with hydrops fetals due to Thalesemia or (alphathal major) or ATMin utero compatible hemahchoitic call trumsplantation (I LIHCT IUT) at 18-22 week has saved such bodies, which was unimaginable till now through the technique is new but certain has got potential to save such fetuses in future.
  • Successful in utro stemcell transplantations with stem cells is a major step in fetal medicine which opens possibilities of management of congenital, hemopoictic, metabolic and immunological disorders without chemotherapy.
  • In another recessive genetic disorder cystic fibrosis has shown some promising results in experimental animals cystic filosis is a life threatening multi-organ disease.
  • If diagnosed by ch villi sampling/Amniocentesis the couple may be given a choice of termination of the pregnancy.
  • Duchene 4 Bechers muscular dys therapy are other musculasislefal disorders where the children do not survive longer can be diagnosed pre-natal & if couple desires the pregnancy may be continued or terminated accordingly.
  • G.H. deficiency is another disorder which can be diagnosed prenatally & managed accordingly by giving regular G.H. patiently to the baby in post-natal life during the years of growth.

How is it diagnosed?

Diagnosis is done mainly by 3 methods:
  • Newborn screening: Screens for raised immune reactive trypsio.
  • Sweet testing: Confirmatory Method, apply medicine which stimulates sweating, sweet collected 8 tests for abnormal amount of sodium & chloride
  • Genetic testing

How is it treated?

  • Treatments of airway injection.
  • Good nutrition
  • Active life-style
  • Tit of airway injection by IV, inhales, oral by oxygen provision.
  • Antibiotics inhaled levofloxacin ciproflox, oz, throufian
  • Nutritional supplements vitamin A, betaconrotense, Vitamin D,E,K
  • Chest physiotherapy, massage therapy
  • Lung transplantation.

Consult with our experienced Doctors

JNU is home to some of the most eminent doctors in the world, most of whom are pioneers in their respective arenas and are renowned for developing innovative and revolutionary procedures
Meena Naik

Dr. Meena Naik

Professor & Head

Qualification

MBBS, MD

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Deepa Lokwani Masand

Dr. Deepa Lokwani Masand

Professor

Qualification

MBBS, MD

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Nisha Naruka

Dr. Nisha Naruka

Professor

Qualification

MBBS, MS

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Kamlesh Kumari

Dr. Kamlesh Kumari

Associate Professor

Qualification

MBBS, MS

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Pragati Meena

Dr. Pragati Meena

Associate Professor

Qualification

MBBS, MS

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Disha Gupta

Dr. Disha Gupta

Assistant Professor

Qualification

MBBS, MD

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Ambika Jhanwar

Dr. Ambika Jhanwar

Assistant Professor

Qualification

MBBS, DNB

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Neha Vashisth

Dr. Neha Vashisth

Assistant Professor

Qualification

MBBS, DNB

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Nikita Jain

Dr. Nikita Jain

Assistant Professor

Qualification

MBBS, MS

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Richa Choudhary

Dr. Richa Choudhary

Assistant Professor

Qualification

MBBS, MS

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Jyoti Arya

Dr. Jyoti Arya

Assistant Professor

Qualification

MBBS, MS

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