Three Children with Electrolyte Problems by Larry Greenbaum, MD, PhD Pediatric Nephrology by Larry Greenbaum, MD, PhD Pediatric Nephrology

Patient One u Two year old with failure to thrive u Polyuria and polydipsia u Blood pressure of 160/

Patient Two u One week old brought to the hospital for lethargy, poor feeding and dehydration (Bun and creatinine normalized after hydration)

Patient Three u Four month old with fever and dehydration u Failure to thrive and decreased tone

Do you enjoy renal physiology? Yes No 10% 90% 95% 5%

Distal tubule

Na + K+K+ K+K+ K+K+ H+H+ K+K+ K+K+ K+K+ H+H

Adrenal Gland Kidney Aldosterone Renin ATII Volume Depletion Regulation of Aldosterone

Three Possible Problems u Excess aldosterone effect l Hypertension l Hypokalemia and metabolic alkalosis u Absence of aldosterone effect l Hypotension l Hyperkalemia, metabolic acidosis and hyponatremia u Physiologic aldosterone overproduction l Volume depletion l Hypokalemia and metabolic alkalosis

Excess Aldosterone Effect Adrenal Gland Kidney Aldosterone Adrenal adenoma

Na + K+K+ K+K+ K+K+ H+H+ K+K+ K+K+ K+K+ H+H

Absence of Aldosterone Effect Adrenal Gland Kidney Renin ATII Volume Depletion 21-Hydroxylase deficiency (CAH)

17  -Hydroxypreg. 17  -hydroxyprog. 11-deoxycortisol Cortisol Pregnenolone Progesterone DOC Corticosterone 18-Hydroxycorticosterone Aldosterone DHEA Androstendione Testosterone GlucocorticoidsMineralocorticoidsAndrogens

Na + K+K+ K+K+ K+K+ H+H+ K+K+ K+K+ K+K+ H+H+

Physiologic Aldosterone Overproduction Adrenal Gland Kidney Aldosterone Renin ATII Volume Depletion Loop Diuretic

Distal tubule

Na + K+K+ K+K+ K+K+ H+H+ K+K+ K+K+ K+K+ H+H

Patient One u Two year old with failure to thrive u Polyuria and polydipsia u Blood pressure of 160/

Case One Diagnosis u Excess aldosterone effect u Absence of aldosterone effect u Physiologic aldosterone overproduction Voting 85% 10% 5%

Na + K+K+ K+K+ K+K+ H+H+ K+K+ K+K+ K+K+ H+H

Liddle Syndrome u Severe hypertension u Hypokalemia and metabolic alkalosis u Polyuria, polydipsia and muscle weakness u Low aldosterone and renin levels u Autosomal dominant u Blood pressure does not improve with Aldactone but does improve with triamterene or amiloride

Na + K+K+ K+K+ K+K+ H+H+ K+K+ K+K+ K+K+ H+H A A A A TT TT

Patient Two u One week old brought to the hospital for lethargy, poor feeding and dehydration (Bun and creatinine normalized after hydration)

Case Two Diagnosis u Excess aldosterone effect u Absence of aldosterone effect u Physiologic aldosterone overproduction Voting 5% 90% 5%

Na + K+K+ K+K+ K+K+ H+H+ K+K+ K+K+ K+K+ H+H+

Pseudohypoaldosteronism Type I u Dehydration and failure to thrive as neonates u Hyponatremia, hyperkalemia and metabolic acidosis u Elevated plasma renin and aldosterone u Aldosterone resistance in kidney, sweat and salivary glands, colonic mucosa u Autosomal recessive u Treatment with NaCl and Kayexalate

Patient Three u Four month old with fever and dehydration u Failure to thrive and decreased tone

Case Three Diagnosis u Excess aldosterone effect u Absence of aldosterone effect u Physiologic aldosterone overproduction Voting 0 100%

Na + K+K+ K+K+ K+K+ H+H+ K+K+ K+K+ K+K+ H+H

Distal tubule

Bartter Syndrome u Hypokalemia and metabolic alkalosis u Failure to thrive and muscle weakness u Polyuria and polydipsia (polyhydramnios and premature delivery) u Autosomal recessive

Differential of Excess Aldosterone Effect High Aldosterone Low Renin u Primary aldosteronism u Glucocorticoid- remediable aldosteronism Low Aldosterone Low Renin u Congenital adrenal hyperplasia u Liddle syndrome u Apparent mineralocorticoid excess u Licorice High Aldosterone High Renin u Renovascular disease u Renin-secreting tumor u Malignant hypertension u Birth control pills

Na K Aldosterone Cortisol 11  HSD Cortisone K 11  -Hydroxysteroid Dehydrogenase

Differential of Absence of Aldosterone Effect Aldosterone deficiency u Adrenal insufficiency u CAH u Aldosterone synthetase Aldosterone resistance u Pseudo- hypoaldosteronism u Obstructive uropathy u Pyelonephritis u Sickle cell disease u Chronic renal failure

Differential of Physiologic Aldosterone Overproduction Urine Chloride <10 u Loss of gastric fluids u Chloride-losing diarrhea u Sweat (CF) u Dietary chloride deficiency u Remote diuretics Urine Chloride >20 u Current diuretics u Bartter syndrome u Gitelman syndrome

The End