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The Crystal Maze

The Crystal Maze. Journeying together through cystinosis: A patient‘s and doctor’s perspective. Background. Cystinosis is an autosomal recessive lysosomal storage disorder Multisystem disorder but particularly affects proximal tubular cells in kidney

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The Crystal Maze

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  1. The Crystal Maze Journeying together through cystinosis: A patient‘s and doctor’s perspective

  2. Background • Cystinosis is an autosomal recessive lysosomal storage disorder • Multisystem disorder but particularly affects proximal tubular cells in kidney • Renal Fanconi syndrome is often first presenting abnormality • Corneal disease, endocrine abnormalities,myopathy and CNS abnormalities alsopotential complications Reference 1

  3. Background Reference 2

  4. Background Reference 2

  5. Loss of proximal tubular function • Polyuria, polydipsia and dehydration • Hypophosphataemia • Hypokalaemia • Acidosis • Hyperchloraemia • Glycosuria • Amino aciduria • Hyperuricosuria

  6. What does this mean in real life?

  7. What does this mean in

  8. What about when it goes wrong? • 48hrs of cramping abdominal pain • 7-10 loose stools per day • Fevers up to 39

  9. Questions • Grace‘s normal intake per day (fluidsand electrolytes): • 7000mls fluid • Phosphate sandoz 16.1mmols • Potassium citrate 152mIs (54.3mmols K+) • Current electrolytes: Na 142, K 3.3, PO4 0.54, HCO3 16.4, iCa 1.18 • You estimate she currently needs: • 8500mls fluid • 380mmols sodium bicarbonate • 380mmols potassium • PO4 correction

  10. Question 1 • What initial fluid/electrolyte regime do you plan?

  11. What initial fluid/electrolyte regime do you plan? • Oral phosphate supplements + 350mls/hr 0.9% saline with 20mmol KCl + 4.2% sodium bicarbonate infusion • 350mls/hr 5% dextrose with 20mmol KCl and 20mmol sodium bicarbonate + IV phosphate correction over 24hrs as per SORT • 350mls/hr Hartmann’s solution with 15mmol KCl + IV phosphate correction over 24hrs as per SORT

  12. Answer • What initial fluid/electrolyte regime do you plan? • Oral phosphate supplements + 350mls/hr 0.9% saline with 20mmol KCl + 4.2% sodium bicarbonate infusion • 350mls/hr 5% dextrose with 20mmol KCl and 20mmol sodium bicarbonate + IV phosphate correction over 24hrs as per SORT • 350mls/hr Hartmann’s solution with 15mmol KCl + IV phosphate correction over 24hrs as per SORT • Arggh! Phone a friendly nephrologist…..

  13. How will you administer this fluid/electrolyte regime? • 2 large bore cannulae on the ward • Via a PICC line, in paediatric HDU • Via a central line, on PICU • 1 • 2 • 3 • 1, 3 • 2,3 • All of the above

  14. Answer • How will you administer this fluid/electrolyte regime? • Via 2 large bore cannulae, on the ward • Via a PICC line, in paediatric HDU • Via a central line, on PICU

  15. Question 3 • Over to Grace – How good were we at communicating our plans?

  16. The Future – Moving on up together

  17. The Future – Moving on up together

  18. Thank you for listening! Any questions?

  19. References • Cherqui S., Courtoy PJ. The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives. Nat Rev Nephrol. 2017 Feb;13(2):115-131 • Chevalier RL. The proximal tubule is the primary target of injury and progression of kidney disease: role of the glomerulotubular junction. Am J Physiol Renal Physiol311:F145-F161, 2016.

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