Sep
19
2024
September 19, 2024
Grand Rounds in Pediatric Nephrology – an ISN-IPNA Sister Centers initiative: Genetic Variations and Short term outcomes in Children with Distal Renal Tubular Acidosis: Insights from the Indian Tubular Disorder Registry
- 1:00 PM CEST
Renal tubular acidosis (RTA) is a tubulopathy causing normal anion gap hyperchloremic metabolic acidosis, categorized into four types: distal (type 1), proximal (type 2), mixed (type 3), and hyperkalemic (type 4). Distal RTA (dRTA) results from impaired hydrogen ion excretion and was previously thought to be benign but can lead to significant long-term morbidities. This webinar will present a case study of pediatric dRTA, discuss genetic variations, and review outcomes from the Indian Tubulopathy Registry, highlighting the importance of early diagnosis and short term outcomes
Learning objectives:
- Approach to a child with suspected renal tubular acidosis
- Clinical phenotype and genetic profile of children with distal renal tubular acidosis
- Genetic variation and short term out come of distal RTA: Indian tubular disorder registry
Further reading:
- Palazzo V, Provenzano A, Becherucci F, et al. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. Kidney Int. 2017;91(5):1243-1255. doi:10.1016/j.kint.2016.12.01
- Lopez-Garcia SC, Emma F, Walsh SB, et al. Treatment and long-term outcome in primary distal renal tubular acidosis. Nephrol Dial Transplant. 2019;34(6):981-991. doi:10.1093/ndt/gfy409
Moderator
Elena Levtchenko (Netherlands)
Speakers
Paul Goodyer (Canada)
Martin Bitzan (United Arab Emirates)
Girish Bhatt (India)
Athira Puthukara (India)