Acquired Gitelman syndrome in a patient with primary Sjögren syndrome.

Acquired Gitelman syndrome (GS) associated with Sjögren syndrome (SS) is rare, and the test to determine the pathophysiological state of acquired GS in patients with primary SS has not been reported previously. A 47-year-old woman with sicca complex presented to our clinic with intermittent muscle cramping and weakness involving both lower extremities over several months. Laboratory findings showed hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria, which met the criteria for GS. Diagnostic evaluation identified primary SS as the cause of the acquired GS. Light microscopic examination of renal tissue from the patient showed mild tubulointerstitial nephritis. Immunohistochemical staining of renal tissue showed the absence of the sodium-chloride cotransporter (NCCT) in the distal convoluted tubules. Incubation of the patient's serum with normal mouse kidney tissue showed a pattern of NCCT in the distal convoluted tubules similar to that of incubation of normal mouse kidney with the rabbit polyclonal anti-NCCT antibody. This is a rare case of acquired GS associated with primary SS, and our findings suggest the presence of circulating autoantibodies to NCCT.

Increased C-reactive protein following hemodialysis predicts cardiac hypertrophy in chronic hemodialysis patients.

BACKGROUND: Chronic inflammation characterized by increased C-reactive protein (CRP) levels strongly predicts cardiovascular death in both nonrenal and renal patients. We investigated the role of hemodialysis-induced elevated CRP levels on cardiac hypertrophy in hemodialysis patients. METHODS: We grouped 118 stable patients as responders and nonresponders according to the response of CRP (>4 mg/L) after a single hemodialysis session. RESULTS: Predialysis CRP and interleukin-6 (IL-6) concentrations were significantly greater in responders compared with nonresponders (6.4 versus 2.0 mg/L and 8.7 versus 4.8 ng/L, respectively; P < 0.01). Postdialysis CRP concentrations in responders (8.8 mg/L; P < 0.05) and IL-6 concentrations in responders and nonresponders (10.0 versus 5.4 ng/L; P < 0.05) further increased. Intact parathyroid hormone, fibrinogen, total cholesterol, low-density lipoprotein cholesterol, and lipoprotein(a) [Lp(a)] levels (P < 0.05), as well as interventricular septal thickness (IVST; P < 0.005), left ventricular posterior wall thickness (LVPWT; P < 0.05), and left ventricular mass index (LVMi; P < 0.05) were significantly greater in responders compared with nonresponders. Predialysis and postdialysis CRP levels correlated positively with Lp(a) (P < 0.01, P < 0,05, respectively), fibrinogen, and predialysis and postdialysis IL-6 levels (P < 0.001) and negatively with albumin level (P < 0.05, P < 0.01, respectively). LVMi, as well as IVST and LVPWT, correlated not only with predialysis and postdialysis CRP levels, but also IL-6 levels (P < 0.05). The interval changes in postdialysis to predialysis CRP levels correlated significantly with IVST, PWT (r = 0.500; r = 0.458; P < 0.001, respectively), and LVMi (r = 0.252; P < 0.05). On multivariate analysis, the responder was the only predictor of IVST, LVPWT, and LVMi (P < 0.001, P < 0.001, and P < 0.01, respectively). CONCLUSION: Elevated CRP concentrations associated with hemodialysis may be useful for the prediction of proatherogenic reactivity and cardiac hypertrophy.

The impact of the aortic pulse wave velocity on the cardiovascular outcomes of hemodialysis patients.

The aims of our study were to identify the risk factors for an increased aortic pulse wave velocity (AoPWV) and to assess the impact of the AoPWV on the cerebro-cardiovascular (CV) outcomes of hemodialysis (HD) patients. Seventy two HD patients were included, and the AoPWV, the echocardiography and the biochemical parameters were measured. After dividing the patients into tertiles according to the AoPWV values, we defined the low, the middle and the high AoPWV groups. The patients in the high AoPWV group showed a significantly higher age and high-sensitivity C-reactive protein level, a greater prevalence of diabetes and statin use, left ventricular hypertrophy, average pulse pressure (PP), AoPWV and left ventricular mass index and a lower serum albumin level than those in the low AoPWV group (p<0.05). On multivariate regression analysis of the AoPWV, age and the average PP were independently related to the AoPWV (p<0.05). On the multivariate Cox analysis for CV outcomes, the AoPWV and the average PP remained significant independent predictors of CV events. Our data suggest that an increased AoPWV is an independent predictor for the CV outcomes of HD patients.

A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.

The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance. A 17-year-old girl visited our clinic for the evaluation and treatment of proteinuria. She had dystrophic nails, palpable iliac horns, and hypoplastic patellae. Electron microscopy of a renal biopsy showed irregular thickening of the glomerular basement membrane. A family history over three generations revealed five affected family members. Genetic analysis found a change of TCG to TCC, resulting in a synonymous alteration at codon 219 in exon 4 of the LMX1B gene in two affected family members. The same alteration was not detected in an unaffected family member. This is the first report of familial nail-patella syndrome associated with an LMX1B in Korea mutation, However, we can not completely rule out the possibility that the G-to-C change may be a single nucleotide polymorphism as this genetic mutation cause no alteration in amino acid sequence of LMX1B.