A detailed comparison of Bartter and Gitelman syndrome inheritance patterns, site of defects in the kidney, clinical features, pathophysiology, and treatment. A description of similarities and differences between both conditions.
Similarities between Bartter and Gitelman Syndrome
Treat both conditions as though the patient is on a diuretic medication. In both conditions, this leads to fluid (low blood pressure and diuretic-induced secondary hyperaldosteronism) and electrolyte loss (low potassium, low hydrogen ions and low magnesium).
Table 1. Details of similarities of both syndromes
| Parameter | Findings |
| Effects on aldosterone and renin | Elevated plasma aldosterone concentration and plasma renin activity |
| Blood pressure | Normal or Low blood pressure |
| Potassium | Hypokalemia |
| Serum Bicarbonate | Metabolic Alkalosis |
| Magnesium | Hypomagnesemia |
| Treatment with spironolactone | Yes |
| Treatment with amiloride | Yes |
| Treatment with liberal salt intake | Yes |
| Treatment with potassium and magnesium supplementation | Yes |
Differences between Bartter and Gitelman Syndrome
Table 2. Key Differences between both syndromes
| Parameter | Bartter Syndrome | Gitelman Syndrome |
| Inheritance pattern | Autosomal recessive or dominant | Autosomal recessive |
| Pathophysiology | Defective epithelial transport of sodium and chloride in the thick ascending limb of loop of Henle (TALH) due to mutations in pumps, channels or transporters | Inactivating mutations in thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubule (DCT) |
| Diuretic Simulation | Presents as though patient is on a loop diuretic | Presents as though the patient is on a thiazide sensitive diuretic |
| Site of Defect in the nephron | TALH | DCT |
| Age of onset | Childhood | Adolescents/Adults |
| Dehydration | Yes | No |
| Polyuria and Polydipsia | Yes | No |
| Urinary calcium handling | Hypercalciuria | Hypocalciuria |
| Nephrolithiasis | Yes | No |
| Hypomagnesemia | + | +++ |
| Prostaglandin E | High | Normal |
| Responds to NSAIDs | Yes | No |
Bartter Syndrome Mnemonic
This is a simple memory aid or mnemonic to remember this syndrome. BOTH AGONY RESPONDS TO (THICK ASCENDING LOOP OF HENLE), prostaglandin E and REHYDRATION
| Letter | Memory Aid |
| B | Both (Autosomal Recessive or Dominant) |
| A | Agony (renal stones and hypercalciuria) |
| RT | Responds To (NSAIDS) |
| T | Thick Ascending Loop of Henle |
| E | prostaglandin E |
| R | Rehydration (patients have polyuria and polydipsia which leads to dehydration) |
Gitelman Syndrome Mnemonic
Use the number of syllables to determine the site of this defect. Remember the unique features of Bartter syndrome are absent in Gitelman syndrome. Use the features of the former to tease out the unique findings in the latter.
| Letters | Memory Aid |
| GI-TEL-MAN | THI-A-ZIDE |
Visual Summary
A model of the thiazide sensitive Sodium Chloride symporter in the pathogenesis of Gitelman’s syndrome
References
- Fremont OT, Chan JC. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr. 2012 Feb;8(1):25-30.
- Seyberth HW, Weber S, Kömhoff M. Bartter’s and Gitelman’s syndrome. Curr Opin Pediatr. 2017 Apr;29(2):179-186.
Images(s) Courtesy
Nine VAM Knoers and Elena N Levtchenko, CC BY 2.0
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