Accentuated hyperparathyroidism in type II Bartter syndrome

Background

Bartter syndrome (BS) may be associated with different degrees of hypercalciuria, but marked parathyroid hormone (PTH) abnormalities have not been described.

Methods

We compared clinical and laboratory data of patients with either ROMK-deficient type II BS (n?=?14) or Barttin-deficient type IV BS (n?=?20).

Results

Only BS-IV patients remained mildly hypokalemic in spite of a higher need for potassium supplementation. Estimated glomerular filtration rate (eGFR) was mildly decreased in only four BS-IV patients. Average PTH values were significantly higher in BS-II (160.6?±?85.8 vs. 92.5?±?48 pg/ml in BS-IV, p?=?0.006). In both groups, there was a positive correlation between age and log(PTH). Levels of 25(OH) vitamin D were not different. Total serum calcium was lower (within normal limits) and age-related serum phosphate (Pi)-SDS was increased in BS-II (1.19?±?0.71 vs. 0.01?±?1.04 in BS-IV, p?<?0.001). The GFR threshold for Pi reabsorption was higher in BS-II (5.63?±?1.25 vs. 4.36?±?0.98, p?=?0.002). Spot urine calcium/creatinine ratio and nephrocalcinosis rate (100 vs. 16 %) were higher in the BS-II group.

Conclusions

PTH, serum Pi levels, and urinary threshold for Pi reabsorption are significantly elevated in type II vs. type IV BS, suggesting a PTH resistance state. This may be a response to more severe long-standing hypercalciuria, leading to a higher rate of nephrocalcinosis in BS-II.