← all disease traces
Bartter syndrome type 1
SLC12A1 (NKCC2)OMIM 601678do(sodium_water_reabsorption ↓)
loss-of-function of the loop-of-Henle Na-K-2Cl cotransporter -> salt wasting (note: at this node granularity Bartter is qualitatively degenerate with Gitelman — both = salt wasting).
plasma potassium concentration ↓HPO: HypokalemiaHP:0002900
comparative-statics (steady-state) net: ?
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) plasma renin activity ↑ →(+) plasma angiotensin II concentration ↑ →(+) plasma aldosterone concentration ↑ →(-) plasma potassium concentration ↓
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) plasma renin activity ↑ →(+) plasma angiotensin II concentration ↑ →(+) plasma aldosterone concentration ↑ →(+) arterial blood pH ↑ →(+) net cellular (transcellular) potassium uptake rate ↑ →(-) plasma potassium concentration ↓
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(+) urinary sodium and water excretion (pressure natriuresis) ↓ →(-) extracellular fluid volume ↑ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↓ →(+) plasma bicarbonate concentration ↓ =(identity +) arterial blood pH ↓ →(+) net cellular (transcellular) potassium uptake rate ↓ →(-) plasma potassium concentration ↑
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(+) urinary sodium and water excretion (pressure natriuresis) ↓ →(-) extracellular fluid volume ↑ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↓ →(+) plasma bicarbonate concentration ↓ =(identity +) arterial blood pH ↓ →(+) renal (distal nephron) potassium excretion rate ↓ →(-) plasma potassium concentration ↑
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(+) urinary sodium and water excretion (pressure natriuresis) ↓ →(-) extracellular fluid volume ↑ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↓ →(+) plasma bicarbonate concentration ↓ =(identity +) arterial blood pH ↓ →(+) total peripheral resistance ↓ =(identity +) mean arterial pressure ↓ →(-) plasma aldosterone concentration ↑ →(-) plasma potassium concentration ↓
plasma renin activity ↑HPO: Increased circulating renin concentrationHP:0000848
comparative-statics (steady-state) net: ?
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) plasma renin activity ↑
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) total peripheral resistance ↑ →(+) left-ventricular afterload (systolic wall stress / aortic ejection load) ↑ →(-) left-ventricular stroke volume (SV = EDV - ESV) ↓ =(identity +) cardiac output ↓ =(identity +) mean arterial pressure ↓ →(-) baroreflex sympathetic outflow ↑ →(+) plasma renin activity ↑
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) total peripheral resistance ↑ →(+) left-ventricular afterload (systolic wall stress / aortic ejection load) ↑ →(-) left-ventricular stroke volume (SV = EDV - ESV) ↓ =(identity +) cardiac output ↓ =(identity +) mean arterial pressure ↓ →(+) renal perfusion pressure ↓ →(-) plasma renin activity ↑
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(+) urinary sodium and water excretion (pressure natriuresis) ↓ →(-) extracellular fluid volume ↑ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↓ →(+) plasma bicarbonate concentration ↓ =(identity +) arterial blood pH ↓ →(-) integrated central + peripheral chemoreceptor drive to breathe ↑ →(+) baroreflex sympathetic outflow ↑ →(+) plasma renin activity ↑
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) total peripheral resistance ↑ →(+) left-ventricular afterload (systolic wall stress / aortic ejection load) ↑ →(-) left-ventricular stroke volume (SV = EDV - ESV) ↓ =(identity +) cardiac output ↓ =(identity +) mean arterial pressure ↓ →(+) arterial (carotid sinus + aortic arch) baroreceptor afferent firing rate ↓ →(-) baroreflex sympathetic outflow ↑ →(+) plasma renin activity ↑
plasma aldosterone concentration ↑HPO: Increased circulating aldosterone concentrationHP:0000859
comparative-statics (steady-state) net: ?
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) plasma renin activity ↑ →(+) plasma angiotensin II concentration ↑ →(+) plasma aldosterone concentration ↑
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) plasma renin activity ↑ →(+) plasma angiotensin II concentration ↑ →(+) antidiuretic hormone (vasopressin) concentration ↑ →(-) plasma osmolality ↓ →(+) plasma potassium concentration ↓ →(+) plasma aldosterone concentration ↓
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) plasma renin activity ↑ →(+) plasma angiotensin II concentration ↑ →(+) antidiuretic hormone (vasopressin) concentration ↑ →(-) plasma osmolality ↓ →(+) water intake (drinking / thirst-driven ingestion) ↓ →(-) plasma sodium concentration ↑ →(-) plasma aldosterone concentration ↓
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(+) urinary sodium and water excretion (pressure natriuresis) ↓ →(-) extracellular fluid volume ↑ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↓ →(+) plasma bicarbonate concentration ↓ =(identity +) arterial blood pH ↓ →(+) total peripheral resistance ↓ =(identity +) mean arterial pressure ↓ →(-) plasma aldosterone concentration ↑
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(+) urinary sodium and water excretion (pressure natriuresis) ↓ →(-) extracellular fluid volume ↑ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↓ →(+) plasma bicarbonate concentration ↓ =(identity +) arterial blood pH ↓ →(+) net cellular (transcellular) potassium uptake rate ↓ →(-) plasma potassium concentration ↑ →(+) plasma aldosterone concentration ↑
plasma bicarbonate concentration ↑HPO: Elevated serum bicarbonate concentrationHP:0032067
comparative-statics (steady-state) net: ?
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(+) urinary sodium and water excretion (pressure natriuresis) ↓ →(-) extracellular fluid volume ↑ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↓ →(+) plasma bicarbonate concentration ↓
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) plasma renin activity ↑ →(+) plasma angiotensin II concentration ↑ →(+) plasma aldosterone concentration ↑ →(-) plasma potassium concentration ↓ →(-) plasma bicarbonate concentration ↑
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) plasma renin activity ↑ →(+) plasma angiotensin II concentration ↑ →(+) plasma aldosterone concentration ↑ →(-) plasma potassium concentration ↓ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↑ →(+) plasma bicarbonate concentration ↑
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) plasma renin activity ↑ →(+) plasma angiotensin II concentration ↑ →(+) plasma aldosterone concentration ↑ →(-) plasma potassium concentration ↓ →(+) plasma insulin concentration ↓ →(-) hepatic ketogenesis rate (acetyl-CoA -> acetoacetate / 3-hydroxybutyrate) ↑ ↠(production +) plasma ketone body concentration (acetoacetate + 3-hydroxybutyrate) ↑ →(-) plasma bicarbonate concentration ↓
renal tubular sodium and water reabsorption ↓ →(+) blood volume ↓ →(+) atrial natriuretic peptide concentration ↓ →(-) plasma renin activity ↑ →(+) plasma angiotensin II concentration ↑ →(+) plasma aldosterone concentration ↑ →(-) plasma potassium concentration ↓ →(-) total peripheral resistance ↑ =(identity +) mean arterial pressure ↑ →(-) alveolar ventilation (effective gas-exchanging ventilation) ↓ →(-) arterial partial pressure of carbon dioxide (PaCO2) ↑ →(+) plasma bicarbonate concentration ↑
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.