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The highs and lows of sodium

The highs and lows of sodium. Detlef Bockenhauer. ?. Pathophysiology. 2-week old neonate transferred to GOSH renal ward Born at 32-wk gestation Pregnancy complicated by polyhydramnios (2 amniocentesis) Postnatal: polyuria (200 ml/kg/d) and severe electrolyte disturbance

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The highs and lows of sodium

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  1. The highs and lows of sodium Detlef Bockenhauer

  2. ?

  3. Pathophysiology • 2-week old neonate transferred to GOSH renal ward • Born at 32-wk gestation • Pregnancy complicated by polyhydramnios (2 amniocentesis) • Postnatal: polyuria (200 ml/kg/d) and severe electrolyte disturbance • 3rd child of healthy parents, 1st cousins

  4. Examination • Decreased peripheral perfusion • Wt: 1.68 kg • Length: 44 cm • HC: 29 cm • BP: 68 mmHg systolic

  5. Biochemistries

  6. Diagnosis • Bartter syndrome • Also has sensorineural deafness • Bartter type 4 • Homozygous mutation in Barttin p.Pro151Leufs*27

  7. Pathophysiology CLCNKB/A Barttin

  8. Treatment • Salt! up to 14 mmol/kg/d • Potassium up to 13 mmol/kg/d • NSAID (indomethacin, celecoxib)

  9. Further course

  10. “Renal Apnoea” • Recurrent desaturations • Inability to extubate after GA for central line insertion

  11. Polysomnography

  12. More complications • Hypophosphataemic rickets

  13. ….and more complications • Severe developmental delay • Failure-to-thrive • Stuck in hospital S DIUM TRANSPORT

  14. Homer said it all

  15. How to move forward? • Palliative care • Titration with HCl • Nephrectomy(ies) • amiloride

  16. Amiloride action blood urine blood Principal cell intercalated cell ENaC K+ t MRCR Aldo H+ ROMK H-ATPase t 2K+ Na-K-ATPase 3Na+

  17. Pathophysiology ?

  18. Bartter syndrome affects tubuloglomerular feedback • MD cells are TAL cells • chloride reabsorption leads to renin/angiotensin activation via Prostaglandins • COX-2 • Patients have serum renin & aldosterone and urine PGE2

  19. Amiloride justification • JG apparatus is “short circuited”, as no chloride reabsorption • => prostaglandin=>renin=>aldosterone independent of volume status • Volume homeostasis must be maintained by adequate salt supplementation

  20. Course since • Blood pH <7.6 • Improved mental state • No further phosphate supplementation • Discharged home age 12 months (2 months after starting amiloride) • Severe developmental delay • CKD stage 3 (eGFR 30 ml/min)

  21. Conclusions • Aldosterone is key hormone to preserve sodium • Sodium (volume) homeostasis overrides, potassium and acid-base homeostasis • Bartter syndrome: dysfunctional TGF

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