Search

We present a patient with a rare systemic autoinflammatory disease (mevalonate kinase deficiency -MKD-) with the identification of two heterozygous variants (c.1129G>A and c.32C>T) in the Mevalonate Kinase gene, detected by next generation sequencing and a highly prevalent glomerulonephritis (IgA nephropathy). The patient presents clinically with a monthly recurrent periodic fever from 12 days of age, accompanied by mucocutaneous lesions (maculopapular rash in extremities, aphthous stomatitis), joint (arthralgias in ankles, wrists and knees), lymphoid (cervical lymphadenopathy, splenomegaly), gastrointestinal (diarrhea, abdominal pain) and kidney (hematuria and proteinuria) with repeated biopsies showing IgA nephropathy alternating activity with chronicity. During follow-up. The patients presented a poor therapeutic response to multiple immunosuppressive regimens used for 7 years (corticosteroids, azathioprine, mycophenolate, cyclophosphamide, rituximab and tocilizumab), and finally a good response to canakinumab. Four years after starting canakinumab, during the course of an infection due to a muscle abscess, the clinical presentation is complicated by a severe renal microvascular event (renal cortical necrosis -RCN-) with acute kidney injury and dialysis requirement. Therecurrent episodes of inflammation due to MKD could act as triggers for the reactivation of glomerulonephritis (which would explain the poor response to immunosuppressants and the rapid progression to histological chronicity) and to generate a microenvironment that predisposes the development of RCN in the face of a non-serious infection. A defect in IgA molecules has been described in MKD, a phenomenon also observed in IgA nephropathy. This raises the challenging hypothesis of a common pathogenetic link between all the patient's clinical manifestations.

The ABO incompatible (ABOi) living donor (LD) kidney transplant allows increasing the number of donors and reducing the time on the waiting list. The objectives of this study were to compare graft survival, patient survival, rejection risk factors and complications during the first year p ost-transplantation in patients who received an ABOi LD kidney transplant between 2014 and 2019 in our institution, matched according to sex, age and immunological risk with a control group of ABO compatible (ABOc) LD kidney transplants in the same period. Thirteen patients were included in each group. No significant differences were found between ABOi and ABOc in the incidence of delayed graft function (n = 0 vs. 1), bleeding (0 vs. 0), infections (13 vs. 13), cellular rejection (1 vs. 3) and humoral rejection (4 vs. 3) in the first year after transplantation. The rejection rate in ABOi do not seem to be related to blood incompatibility. No risk factors associated with rejection were found. Overall survival of patients was 100% in both groups, and graft survival was 92.3% in ABOi and 100% in ABOc (p = 1). ABOi kidney transplantation is an adequate feasible option in our environment for those who do not have compatible donors.

Cardiovascular disorders represent the leading cause of death in dialysis patients. Alterations of bone and mineral metabolism (BMM) and vascular calcifications play a fundamental role in it. The objective of this study was to evaluate the predictive role on cardiovascular mortality of the measurement of biomarkers of BMM and vascular calcifications. A prospective cohort study was performed. All prevalent patients on chronic dialysis in September 2009 at our institution, who completed the total of the complementary studies, were studied. BMM biomarkers were measured (FGF 23, fetuin A, PTH, calcium and phosphorus) and the vascular calcifications were evaluated using the Kauppila and Adragao scores. Follow-up was carried out until 1/1/2019, death or transplant. Of the 30 patients included, 7 (23.3%) died due to cardiovascular causes. The follow-up time was 44.1 ± 30.4 (range = 1.4-112) months. The Adragao score was the only predictive variable of long-term cardiovascular mortality (area under the curve = 0.82; 95% CI 0.64-0.94; p < 0.001). The best cut-off point was 5 (sensitivity = 85.7%; specificity = 78.3%). It was also an independent risk factor for cardiovascular mortality adjusted for age, diabetes mellitus, coronary heart disease, aortic calcifications, time spent on dialysis and follow-up time (adjusted OR = 1.77; 95% CI = 1.06-2.96; p = 0.028). The vascular calcifications quantified from the Adragao score were the only independent predictor of long-term cardiovascular mortality. This score represents a simple, useful and superior tool to the biomarkers of BMM.

Atypical hemolytic uremic syndrome (aHUS) is a rare entity. It is characterized by a thrombotic microangiopathy (nonimmune hemolytic anemia, thrombocytopenia, and acute renal failure), with a typical histopathology of thickening of capillary and arteriolar walls and an obstructive thrombosis of the vascular lumen. The syndrome is produced by a genetic or acquired deregulation of the alternative pathway of the complement system, with high rates of end stage renal disease, post-transplant recurrence, and high mortality. Mutations associated with factor H, factor B and complement C3 show the worst prognosis. Even though plasma therapy is occasionally useful, eculizumab is effective both for treatment and prevention of post-transplant recurrence. We describe here an adult case of congenital aHUS (C3 mutation) under preventive treatment with eculizumab after renal transplantation, with neither disease recurrence nor drug-related adverse events after a 36-months follow-up.

Patients receiving sub-optimal dose of hemodialysis have increased morbidity and mortality. The objectives of this study were to identify predisposing factors and causes of inadequate dialysis, and to design a practical algorithm for the management of these patients. A cross-sectional study was conducted. Ninety patients in chronic hemodialysis at Hospital Privado Universitario de Córdoba were included, during September 2015. Twenty two received sub-optimal dose of hemodialysis. Those with urea distribution volume (V) greater than 40 l (72 kg body weight approximately) are 11 times more likely (OR = 11.6; CI 95% = 3.2 to 51.7, p < 0.0001) to receive an inadequate dose of hemodialysis, than those with a smaller V. This situation is more frequent in men (OR = 3.5; 95% CI 1.01-15.8; p = 0.0292). V greater than 40 l was the only independent predictor of sub-dialysis in the multivariate analysis (OR = 10.3; 95% CI 2.8-37; p < 0.0004). The main cause of suboptimal dialysis was receiving a lower blood flow (Qb) than the prescribed (336.4 ± 45.8 ml/min vs. 402.3 ± 28.8 ml/min respectively, p < 0.0001) (n = 18). Other causes were identified: shorter duration of the session (n = 2), vascular access recirculation (n = 1), and error in the samples (n = 1). In conclusion, the only independent predisposing factor found in this study for sub-optimal dialysis is V greater than 40 l. The main cause was receiving a slower Qb than prescribed. From these findings, an algorithm for the management of these patients was developed.

For patients with chronic renal failure (CRF), kidney transplant (KT) is a better alternative to dialysis in terms of survival, life quality and costs. We studied the general characteristics, causes and survival rate of the dialysis population in 2010. We evaluated broader criteria for acceptance of transplants has affected the results of the procedure in that period. A total of 118 dialysis patients were included; mean age 56.9 ± 18.4 years, dialysis duration 45.5 ± 59.6 months, main cause of CRF was diabetes in 35 (30%), and 58 (49%) were included in waiting list for KT. Of the 34 patients who finished dialysis in 2010, 18 (53%) were KT, while 12 (35%) died (cardiovascular 50%, infectious 17%). Survival at 12 months was 85% for the total group, 98% on waiting list and 72% those who were not enrolled. During 2010 there were 88 KT, 62 with cadaveric donors (CD), 18 with living donors and 8 with double pancreas-kidney transplants. Recipients of CD were 50.7 years old, with 67 months on dialysis, 8 (13%) diabetics, and 12 (20%) with previous KT. Donors had a mean age of 45 years, 28 (45%) expanded criteria, and 27.7 hours of cold ischemia time. During an approximate follow-up of 11.4 months, 13 (21%) suffered acute graft rejection, survival was 88% for graft and 93% for patients. We emphasize KT as the main cause of success as regards dialysis. No differences in risk factors were found to significantly affect graft or patient survival.

A considerable percentage of patients exhibit anemia post kidney transplant. Its origin is multifactorial and the main causes involved depend on the post transplant period considered. We studied in a group of 134 consecutive patients the associated factors and the clinical implications of "late anemia" (6 months post transplant). Multiple regression analysis showed that post transplant oliguria and acute rejection episodes were significantly associated with anemia. Graft survival at 36 months was significantly reduced in the anemic group (83 % versus 96%, p < 0.01). No differences in patients survival or rate of cardiovascular events were observed. We concluded that anemia at 6 months post transplant is independently and significantly associated with events that reduced functioning renal mass and kidney survival.

Serum creatinine is an insensitive marker to identify early changes in glomerular filtration rate (GFR), for this reason alternative methods to estimate renal function result of great clinical importance. Forty-one patients were studied using creatinine clearance modified with cimetidina (Clcrc) as surrogate of GFR, cystatin C-based equations (i.e. Larsson and Hoek formulas), Cockroft-Gault and MDRD abbreviated equations. In the whole group, as well as in those patients with serum creatinine < or =1.2 mg/dl--but reduced renal function: Clcrc 62.01 +/- 17.33 ml/ min/1.73 m(2)-, Larsson and Hoek equations showed higher correlations and lower bias than creatinine-based formulas. Abbreviated MDRD equation showed good performance just in those patients with evident alteration of renal function (serum creatinine > 1.2 mg/dl). We concluded that in patients with different stages of renal function, cystatin C-based equations detect reduction of renal function earlier than the serum creatinine-based formulas.

The early urinary tract infection (EUTI) in kidney transplant recipients is an infection develop during the first 3 months post transplant surgery. The effect of EUTI on graft survival and risk factors have been scarcely studied. Our objetives were the evaluation of risk factors to EUTI, the assessment of the causal agent and graft survival impact. A retrospective analysis of kidney transplantation, period 1997-2000 in Hospital Privado-Centro Médico de Córdoba was carried out. There were two groups of patients with (EUTI group) and without EUTI (control group). Cox model was used to analyze risk factors and Kaplan-Meier method for graft survival. A total of 226 consecutive patients received kidney transplantation. In 55 patients (24.3%) EUTI was detected. Risk factors for EUTI were: invasive urological maneuvers (RR = 4.34, CI 95% 1.42-13.21), diabetes mellitus (RR = 3.79, CI 95% 1.42-10.14), cytomegalovirus infection (RR = 2.9, CI 95% 1.02-8.24) and previous transplants (RR = 2.83, CI 95% 1.08-7.45). Delayed graft function was associated with lower incidence of EUTI (RR = 0.38, CI 95% 0.15-0.94). The causal agents were: Klebsiella pneumoniae (36%), Pseudomonas aeruginosa (24%) and Escherichia coli (9%). Graft survival at 2 years was similar in EUTI (87.2%) and control group (81.2%, p = 0.32). This series shows that invasive urological maneuvers were the main risk factors for EUTI. Graft survival was similar. High prevalence of non coli bacteria need further evaluation.

The survival rate of our end stage renal disease (ESRD) population was calculated by means of actuarial survival curves. A total of 167 patients undergoing hemodialysis or CAPD during the 1977-1991 period were studied. They had been treated and closely followed for at least three months. Mean age for starting dialysis was 40.6 +/- 17 years; 107 (64%) were males and 60 (36%) females. Glomerulonephritis (25%), diabetes (14%) and nephroangiosclerosis (12%) were the primary causes of ESRD. Survival rates were analysed by actuarial curves as designed by Kaplan and Meier. Statistical significance between curves was calculated with the Log Rank test. The level of significance considered was below 0.05. Multivariate analysis of survival was performed using the Cox proportional hazards regression model. Survival rates were in all cases expressed for the 1 degree, 5 degree and 10 degree year. They were for the whole group of 89%, 63%, and 38% respectively. When analysed according to their age: those under 30 years; between 30 and 50 and over 50 years old (at time to start dialysis); survival rates were of 97%, 86%, and 81% for the first group; 89%, 66% and 29% for the second group, and 85%, 44%, and 10% for the third group. Significant differences were found between the first and second group (p < 0.025); the first and the third group (p < 0.001) and second and third group (p < 0.001) (Fig. 4).(ABSTRACT TRUNCATED AT 250 WORDS)

Liver involvement with a variety of viral diseases is a frequent finding in chronic renal failure patients on regular hemodialysis treatment. We evaluated the prevalence of IgG anti-hepatitis C virus antibodies (HVC) in our dialysis unit, looking for risk factors associated with seropositivity and we assessed the type and degree of liver involvement by means of a liver biopsy in those patients with biochemical abnormalities of liver function test. We studied 50 patients aged 13 to 77 years, and performed serial determinations of serum ALT (UI/L). IgG anti HVC was determined by a second generation ELISA Kit (Abbot). We retrieved information from chart review and patient interview, regarding: time on hemodialysis, number of blood transfusions and intravenous IV drug use off dialysis. Liver biopsy specimens were stained with H.E. and Masson and findings were classified as chronic persistent, chronic active hepatitis or cirrhosis, according to Schewer. We compared the findings with those of other patients with liver dysfunction and positive IgG anti HVC who did not have renal failure. Anti-HVC prevalence in our hemodialysis patients was 44%. Anti-HVC seropositive hemodialysed (HD) patients were not different from seronegative HD patients, with regard to age, sex, i.v. drugs usage and peak ALT values. Twelve of 22 HVC positive patients had peak ALT values higher than 40 UI/L (Table 2). Time in HD (75.5 +/- 42.8 m) and number of blood transfusions received (35.3 +/- 28) were clearly different in HVC positive patients, compared to HVC negatives. Histologically, 11 seropositive patients showed chronic persistent hepatitis as the most frequent finding.(ABSTRACT TRUNCATED AT 250 WORDS)