Renal failure
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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease caused by mutations in genes for the tight junction transmembrane proteins Claudin-16 (CLDN16) and Claudin-19 (CLDN19). We present the first case report of a Mexican family with three affected sisters carrying a p. ⋯ End stage renal disease due to renal failure needed kidney transplantation in the three of them. Interesting findings were a heterozygous mother with asymptomatic hypercalciuria warning on the need of carefully explore clinical, laboratory, kidney ultrasonograpy, and mutation status in first degree asymptomatic relatives to avoid inappropriate kidney donors; an evident variable phenotypic expression among patients; the identification of a mutation almost confined to Spanish cases and a 3.5 Mb block of genomic homozygosis strongly suggesting a common remote parental ancestor for the gene mutation reported.
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Observational Study
Serum uric acid may predict development of progressive acute kidney injury after open heart surgery.
Acute kidney injury (AKI) is a common complication of cardiac surgery developing in 25-35% cases. Recently, neutrophil gelatinase-associated lipocalin (NGAL) was shown to predict AKI development earlier than serum creatinine. Some studies demonstrated the predictive role of post-operative serum uric acid (SUA) as an early marker of AKI. We aimed to study the role of serum and urine NGAL as well as SUA to predict progression of AKI. ⋯ Uric acid seems to predict the progression of AKI and RRT requirement in patients underwent cardiac surgery better than NGAL.
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Terlipressin improves renal function in some patients with type-1 hepato-renal syndrome (HRS). Renal contrast-enhanced ultrasound (CEUS), a novel imaging modality, may help to predict terlipressin responsiveness. ⋯ CEUS detected changes in renal cortical microcirculation in response to terlipressin and demonstrated heterogeneous microvascular responses to terlipressin. These initial proof-of-concept findings justify future investigations.
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To explore the possible impact factors on daytime sleepiness among peritoneal patients from a single center in China. A cross-sectional study was conducted in 98 prevalent peritoneal dialysis (PD) patients using both the Pittsburgh Sleep Quality Index (PSQI) questionnaire of sleep quality and the Epworth Sleepiness Scale (ESS) questionnaire of excessive daytime sleepiness (EDS). Biochemical differences between daytime sleepiness and non-daytime sleepiness population were evaluated, following univariate and multivariable analysis to find the risk factors on sleep disturbance. ⋯ Finally, multivariable linear regression indicated that urinary Kt/V, PSQI and magnesium were independent predictors of ESS score. EDS does exist in PD patients and is associated both with poor nighttime sleep quality and lower RRF. Hypermagnesemia may be a treatable risk factor to improve daytime tiredness.
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Currently over 55% of end-stage renal disease (ESRD) patients are aged ≥60 years and patients >75 years represent the fastest growing segment of the dialysis population. We aimed to assess whether the Groningen frailty indicator (GFI) can be used to distinguish fit older ESRD patients, likely able to tolerate and benefit from dialysis, from frail older patients who need further evaluation with a geriatrician's comprehensive assessment. ⋯ Although the GFI can be a useful instrument to identify ESRD patients at risk, both the GFI and the nephrologists' assessment failed to identify specific geriatric impairments. Further research is needed to develop a specific frailty indicator for ESRD patients and to determine the value and effect of a comprehensive geriatric assessment in ESRD patients.