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Rare genetic lung condition treated at Apollo Hospitals, Chennai

Date: 12 Sep 2013

A blind schoolteacher from Andhra Pradesh, who was suffering from a rare genetic condition called the Hermansky-Pudlak Syndrome (HPS), underwent successful double-lung transplantation at the Apollo Hospitals here.

The double-lung transplantation for this genetic condition is the first case in India and second in the world. The first successful transplant was done in the US in 2005, said Dr Paul Ramesh Thangaraj, senior consultant cardiothoracic and transplant surgeon at Apollo Hospitals.

Only one in five lakh to one in a million have this rare condition. HPS results from mutations in one of seven different genes.

"The 26-year-old patient was extremely malnourished. Also, this causes absence of pigment in the skin, blindness, bleeding tendencies and the slow degeneration of the lungs, causing the exchange of oxygen and carbon dioxide to be severely impaired (as happens in end-stage lung disease).

The condition called idiopathic pulmonary fibrosis made the patient bedridden, dependent on oxygen 24 hours a day," the doctor explained. As his heart was functioning well, only his two lungs were removed and replaced with the donated lungs of a victim of a road accident.

"The patient was 5'6 inch tall but he weighed only 36 kg. So, matching lungs that suited his size was very difficult as the lungs should not be too large or too small. Fortunately, we received the lungs and the transplantation was performed five weeks ago," said Dr Thangaraj.

Earlier, the patient stayed at the hospital prior to the transplant operation, unable to remove the oxygen mask even for a few seconds. "As he stays somewhere in Nellore, we kept him at the hospital for more than five weeks. He is well now and will be discharged soon. It will take some three to six months for him to gain weight," said the transplant surgeon.

 
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