Doctors extract kidney stones on table Father Gives New Life To Boy With Rare Disease

14th March 2014, Time Of India – Bangalore, Sunitha Rao R TNN 

Bangalore: Teenage years are usually spent in unlimited fun. But it wasn’t so for 17-year-old Amit (name changed), despite his skills in web-designing and wildlife photography. 

Diagnosed with a rare enzyme disorder called Fabry, he was brought to hospital at a very advanced stage. He was on haemodialysis for many years and suffering from symptoms of heart failure and burning pain. He had to undergo dialysis to get relief from pain every day. 

He needed an immediate kidney transplant and his father, a noted wildlife photographer, offered to donate his right kidney. But before the transplant, doctors at ColumbiaAsia Referral Hospital, Yeshwantpur, found stones in the father’s right kidney. 

“We couldn’t afford to wait for eight more weeks to do stone blasts and cure the father as Amit was in a critical condition. We decided to blast the stones after extracting the kidney from the donor. A procedure called retrograde intrarenalscopy was done on the table and the kidney was transplanted in August 2013,” said Dr Ajit K Huilgol, director and chief transplant surgeon, Columbia Asia Hospital. “We tried a rare experiment and it worked,” said Dr Ajit. Amit is the fourth patient undergoing kidney transplant for Fabry in India, according to doctors. “I am better now and will get back to studies,” says Amit, who has been off academics for a year. 

“This is the first case I have seen in my 30 years as a nephrologist. The incidence is 1 among 40,000 to 1 among 1,20,000 live births. It’s caused by the deficiency of an enzyme,” said Dr Sankaran Sundar, consultant nephrologist, ColombiaAsia Hospital. 

What’s Fabry? 

Fabry is a hereditary disorder caused by a faulty gene and affects more males than females. According to National Fabry Disease Foundation, it is estimated that 1 among 40,000 males has Fabry disease, whereas the estimated prevalence in the general population is 1 among 1,17,000. Here the heart becomes enlarged and load on the kidneys may increase, leading to multiple organ failure.

Location Tags:

  • bangalore
  • Karnataka
  • India

Keywords:

  • Fabry
  • Kidney transplant
  • Renal stone
  • Kidney donation
  • Transplant surgery

 

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