C1q nephropathy in a patient with Gitelman syndrome

Rubio, Consolación Rosado; Gómez, Patricia; Muñoz, María García; García-Cosmes, Pedro; Márquez, José Luis Lerma

doi:10.1093/ndtplus/sfr097

Cited by 2 publications

(3 citation statements)

References 6 publications

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“…Second, they are immune-mediated glomerular diseases, and there is a lack of evidence for a correlation between them and GS. Although two previous articles have proposed some hypotheses regarding NCC’s immunology mechanism, including NCC alteration as an antigenic stimulus in C1qN [8] and SLC12A3 mutations resulting in immunologic abnormalities, including the absence of a natural immune response to nephritis-associated plasmin receptors in acute post-streptococcal glomerulonephritis [28] , more evidence is needed to support these hypotheses.…”

Section: Discussionmentioning

confidence: 99%

“…Besides the manifestations of renal tubulopathy, GS is also accompanied by proteinuria [2][3][4][5][6][7][8][9][10][11][12], renal dysfunction [7][8][9][13][14][15][16], and even renal failure requiring renal replacement [17][18][19]. To date, only 19 cases of GS with renal pathology data have been reported which indicated chronic tubulointerstitial injury [1,10,13,14,19], C1q nephropathy (C1qN), focal segmental glomerulosclerosis (FSGS), minimal change disease (MCD), severe podocyte detachment, diabetic nephropathy, and membranous nephropathy [2, 4-9, 12, 15, 16].…”

Section: Introductionmentioning

confidence: 99%

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Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction

Zhang¹,

Peng²,

Zhao³

et al. 2023

Nephron

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction

Zhang¹,

Peng²,

Zhao³

et al. 2023

Nephron

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“…This comprehensive method distinguished the overlapping phenotypes and enabled an accurate diagnosis. A few isolated cases of GS patients have been associated with other rare conditions such as nephrotic syndrome, parathyroid adenoma or growth hormone deficiency, which presumably just reflects the frequency of the syndrome, as these symptoms are likely unrelated [ 26 , 27 , 28 ].…”

Section: Discussionmentioning

confidence: 99%

Two Brothers from Macedonia with Gitelman Syndrome

Janchevska,

Tasic,

Jordanova

et al. 2023

Balkan Journal of Medical Genetics

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Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis. Here we report on two preschool brothers, who presented with a several months’ history of episodes of carpopedal spasms and muscle aches. The biochemical analyses revealed hypokalemia and hypomagnesemia without metabolic alkalosis. A 24-h urine sample demonstrated hypocalciuria. The molecular analyses showed that both patients were heterozygous for 3 (likely) pathogenic variants in SLC12A3: c.1805_1806del; p. (Tyr602Cysfs*31), c.2660+1G>A and c.2944 A>T; p. (Ile982Phe). Analysis of the parents showed that the mother was heterozygous for the c.2944 A>T p.(Ile982Phe) variant, and the father carried the other 2 variants (c.1805_1806del and c.2660+1G>A). Herein we present two children in a family from N. Macedonia with clinical manifestations and electrolyte imbalances suggestive of GS. The results of the tubulopathy next generation sequencing (NGS) panel confirmed the diagnosis. The boys are treated with a high salt diet and oral potassium and magnesium supplements.

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C1q nephropathy in a patient with Gitelman syndrome

Cited by 2 publications

References 6 publications

Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction

Clinicopathological Features of Gitelman Syndrome with Proteinuria and Renal Dysfunction

Two Brothers from Macedonia with Gitelman Syndrome

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