Category: Uncategorized
July 17, 2026
Phenotypic Spectrum of HNF4α-Associated Fanconi Renotubular Syndrome
An honour to be part of largest publication on HNF-4A Fanconi syndrome published this week in the journal ‘Kidney International Reports’! This is an extremely rare disease with our case being the only case published ever from India: a rare progression Neonatal Hypoglycemia, Hyperinsulinism → Fanconi Syndrome → MODY early. Thanks to the collaborators! Link:
April 15, 2020
Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy
Hyperammonaemia in children can lead to grave consequences in the form of cerebral oedema, severe neurological impairment and even death. In infants and children, common causes of hyperammonaemia include urea cycle disorders or organic acidaemias. Few studies have assessed the role of extracorporeal therapies in the management of hyperammonaemia in neonates and children. Moreover, consensus