Abstract
BackgroundGitelman syndrome (GS) is an autosomal recessive inherited salt-losing tubulopathy (SLT). Here, we describe, for the first time, a case of GS without Gitelman-like features and with concomitant kidney stones, cysts and diabetic nephropathy (DN).Case presentationWe described a male patient had a 19-year history of recurrent fatigue. From childhood, he had polydipsia and polyuria, paroxysmal tetany and palpitation. Serum biochemistry revealed chronic hypokalemia, metabolic alkalosis, normomagnesemia, mildly elevated Cr. Concomitant 24 h urine collection showed inappropriate renal potassium wasting, borderline hypercalciuria, moderate proteinuria consisting of major glomerular. Ultrasound of urinary tract showed bilateral and multiple kidney stones and cysts. Whole exome sequencing (WES) identified compound heterozygous mutations of SLC12A3. The unusual association of SLTs and glomerular proteinuria prompted us to perform a renal biopsy. Renal pathology showed renal involvement consistent with GS and early stage of diabetic nephropathy (DN). After treatment with KCl, magnesium oxide, perindopril and acarbose, the patient had been cured. The fatigue didn’t relapse.ConclusionGS had high variability of phenotype, GS may have no Gitelman-like features, kidney stones are not the exclusion criteria of GS. Renal biopsy should be warranted for GS patients with moderate to massive glomerular proteinuria.
Highlights
Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing tubulopathy (SLT)
Renal biopsy should be warranted for GS patients with moderate to massive glomerular proteinuria
Chronic hypokalemia resulting from urine potassium wasting, metabolic alkalosis, normal blood pressure despite elevated renin and aldosterone indicated SLTs
Summary
Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing tubulopathy (SLT). Conclusion: GS had high variability of phenotype, GS may have no Gitelman-like features, kidney stones are not the exclusion criteria of GS. September 27, 2019.Generalized fatigue and dyspnea developed following upper respiratory infection 19 years ago, laboratory test revealed profound hypokalemia (serum potassium1.8 mmol/L), he was intubated and mechanic ventilation was applied due to respiratory failure resulting from respiratory muscle weakness.
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