Dr. Vishal Pooniya

Dr. Vishal Pooniya |Clyto Access

King Georges Medical University, Lucknow, India

Speaker

Expertise: Pediatric Nephrology

Biography:

Dr. Vishal Pooniya works as a lecturer in Dept of Pediatrics, King Georges Medical University, Lucknow, India. He received his MBBS degree from Institute of Medical Sciences in 2014 and MD in 2008. His research interests focuses on management of neonatal respiratory distress syndrome by indigenous CPAP in a resource poor settings, peritoneal dialysis in children with acute kidney injury: a developing country experience, toxicity of topical cyclopentolate eyedrops in a child etc. He is an editor in Journal of pediatric care. He has attended workshop in Indian Academy of Pediatrics-UNICEF on “Under Five Child Survival Interventions” at Varanasi in 12 Aug 2007. He attended a Conference of National Neonatology Forum which was held in Banaras Hindu University, Varanasi on 7-10 Dec 2006.

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Presentation:

Title: Association of valvular pulmonary stenosis with alkaptonuria during first decade of life

Abstract:

Alkaptonuria is a disorder of tyrosine metabolism caused by deficiency of homogentisic acid oxidase which leads to elevated levels of homogentisic acid (HGA) in serum and urine. Affected children are usually asymptomatic except blackish discoloration of urine on standing. There may be involvement of heart valves, especially aortic valve in 4th or 5th decade.

We, hereby, present a 9 years old girl, born to non-consanguineous parents, who presented to cardiology department with dyspnea on exertion and growth failure. She was found to have severe valvular pulmonary stenosis (PS) with right ventricular hypertrophy and underwent a balloon pulmonary valvotomy. She gave a history of her urine turning black on standing since birth and was then referred to Pediatrics OPD. On investigating, urinary levels of HGA were found to be elevated.

Involvement of pulmonary valve in alkaptonuria is very rare and that too occurs after 4th decade of life. This case shows an association of alkaptonuria with valvular pulmonary stenosis at 9 years of age, although we could not prove that the PS was due to alkaptonuria because valve replacement was not done and hence histopathological examination was not performed. It would be interesting to know whether early valvular involvement can occur in alkaptonuria because than it will require more frequent monitoring for cardiac involvement starting at an early age.

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