Paeds Cases · nephrology-urology-fluids-and-electrolytes
Renal tubular acidosis — OSCE
OSCE communication and clinical reasoning station for the parents of an infant newly diagnosed with hereditary distal renal tubular acidosis presenting with failure to thrive, polyuria, hypokalaemia and nephrocalcinosis, covering the diagnosis, the need for lifelong alkali therapy to protect growth and the kidney, the role of genetic testing and hearing assessment, and the safety-net.
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You are the paediatric registrar. A 7-month-old baby has been admitted with poor growth, vomiting and excessive urination. The team has confirmed a genetic kidney condition called hereditary distal renal tubular acidosis: the kidney tubule cannot get rid of acid properly, so the blood becomes too acidic, and calcium deposits (nephrocalcinosis) have formed in the kidney. The baby will need lifelong medicine (alkali/citrate) to neutralise the acid, and a hearing test and genetic testing have been arranged. The parents want to understand what it is, why the baby needs medicine forever, what the calcium deposits and the hearing test mean, and what to watch for. Explain clearly, check understanding, and agree a plan. [1][4]
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- [1]Pelletier J; Gbadegesin R; Staples B Renal Tubular Acidosis. Pediatr Rev, 2017.PMID 29093127
- [3]Wagner CA; Unwin R; Lopez-Garcia SC; Kleta R The pathophysiology of distal renal tubular acidosis. Nat Rev Nephrol, 2023.PMID 37016093
- [4]Giglio S; Montini G; Trepiccione F; Gambaro G Distal renal tubular acidosis: a systematic approach from diagnosis to treatment. J Nephrol, 2021.PMID 33770395
- [8]Al-Beltagi M; Saeed NK; Bediwy AS; Elbeltagi R Renal calcification in children with renal tubular acidosis: What a paediatrician should know. World J Clin Pediatr, 2023.PMID 38178934