Renal morphology and function from childhood to adulthood in Turner syndrome

Turner syndrome (TS) is a chromosomal disorder with various complications, including congenital anomaly of the kidney and urinary tract (CAKUT). However, its renal function remains poorly known. Therefore, this study aimed to evaluate renal function in TS of various ages from childhood to adulthood.

We retrospectively analyzed 63 patients with TS who visited our hospital between 1989 and 2020, examined their renal morphology, and analyzed renal function by calculating the estimated glomerular filtration rate (eGFR) using formulas applicable for Japanese populations.

Renal morphological abnormality was observed in 22 cases (35.0%) (horseshoe kidney, 7 [11.1%]; hydronephrosis, 11 [17.5%]; duplex collecting system, 3 [4.8%]; and single unilateral kidney, 1 [1.6%]). We evaluated the eGFR of 47 subjects aged 2.8-39.3 years and classified them into Group 1 (with CAKUT, n = 15) and Group 2 (without CAKUT, n = 32). The eGFR at the first visit and the final follow-up was not statistically different between these groups. In Group 1 with CAKUT, the eGFR was not significantly different between that at the first visit and that at the final follow-up (p = 0.21). During the observation period (median, 7.9 years), the eGFR of all individuals in both groups gradually decreased with age, but did not fall < 60 mL/min/1.73 m², which defines chronic kidney disease (CKD).

The renal function of TS remained normal in all cases during our investigation period, and no one developed CKD by the age of 40 years.