title: C1q nephropathy in association with Gitelman syndrome: a case report.
abstract: There have been rare reports of glomerulopathies developing in patients with Bartter syndrome (BS) and its milder variant, Gitelman syndrome (GS). We present the first case of C1q nephropathy (C1qN) in an African American child with GS. This child was diagnosed with GS at 9 years of age and subsequently developed nephrotic range proteinuria 3 years later. Renal biopsy revealed mesangial hypercellularity and focal segmental glomerulosclerosis (FSGS). The segmental lesions were generally located at the vascular pole. Dominant C1q (2+) staining along with IgG (1-2+) was demonstrated in the mesangium, which correlated with scattered electron dense mesangial deposits demonstrated by electron microscopy. Treatment with an angiotensin-converting enzyme inhibitor led to an improvement in proteinuria to near-normal values (urine protein/creatinine ratio down to 0.5), but the creatinine clearance declined to approximately 58 ml/min/1.73 m(2). This case highlights the possible association between the milder hypokalemic tubulopathy, GS, and glomerular disease, including C1qN. Prompt evaluation of proteinuria with renal biopsy in these patients is recommended to detect significant glomerular pathology. Further research is needed to define risk factors for this complication.
authors.affiliation: Department of Pediatrics, Medical College of Georgia, BG 2071, 1120 15th St., Augusta, GA 30912-3795, USA. chanevol@mail.mcg.edu
authors.forename: Coral
authors.initials: C
authors.lastname: Hanevold
authors.forename: Ayesa
authors.initials: A
authors.lastname: Mian
authors.forename: Rory
authors.initials: R
authors.lastname: Dalton
mesh_terms: D002648:Child; D015922:Complement C1q / Q000378:metabolism*; D005260:Female; D053579:Gitelman Syndrome / Q000188:drug therapy / Q000378:metabolism / Q000503:physiopathology*; D006801:Humans; D007674:Kidney Diseases / Q000188:drug therapy / Q000378:metabolism / Q000503:physiopathology*
chemical_list: D015922:Complement C1q