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Gene analysis results. A, C. The patient and his father carry a c.536T>A, p.V179D (arrow) heterozygous mutation in SLC12A3 gene, respectively and his mother has no mutation in SLC12A3 gene at this site. B, D. The patient and his mother carry a c.1456G>A, p.D486N (arrow) heterozygous mutation in SLC12A3 gene, respectively and his father had no mutation in SLC12A3 gene at this site
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Background
Gitelman syndrome (GS) is a rare autosomal recessive inherited salt-losing tubulopathy (SLT). Here, we report, for the first time, a case of GS overlapping nephrotic syndrome (NS) related to PLA2R-associated membranous nephropathy (MN).
Case presentation
We described a male patient had a 4-year history of recurrent fatigue. Serum bioche...
Citations
Introduction:
Gitelman syndrome (GS) is a rare renal tubular salt-wasting disorder. Besides kidney electrolytes loss, proteinuria and renal dysfunction were also observed. However, their incidence, risk factors, pathological features, and prognosis were unclear.
Methods:
We retrospectively reviewed 116 GS patients and analyzed their clinical, genetic, and pathological characteristics. We also systematically reviewed articles on GS with proteinuria and renal dysfunction.
Results:
Twenty-three GS patients had proteinuria (69.6%) and renal dysfunction (43.5%) with a mean age of 35.3 ±13.2 years and 65.2% were male. Compared to patients without proteinuria or renal dysfunction, these patients had elevated plasma angiotensin II level (440.2±351.7 vs. 253.2±187.4 pg/ml, P=0.031) and three times higher incidence of diabetes. The renal pathology of nine biopsied patients indicated hypertrophy of the juxtaglomerular apparatus (100%), chronic tubulointerstitial changes (66.7%), intrarenal vascular changes (66.7%), and glomerulopathy (55.6%). More extensive renin staining was observed in patients with GS than in the control group with glomerular minor lesion (P<0.001). During a median of 85 months (range, 11-205 months) follow-up for 19 out of the 23 GS-renal patients, the renal function was generally stable, except one died of cancer and one developed end-stage renal disease because of concomitant membranous nephropathy and IgA nephropathy.
Conclusion:
Proteinuria and renal dysfunction were more common than expected and might indicate glomerulopathy and vascular lesions besides a tubulointerstitial injury in GS. Renal function may maintain stable with effective therapy in most cases.
