Portuguese Journal of Nephrology & Hypertension

Obesity-related nephropathy in children - the need for greater awareness

Correcting acidosis in CKD patients: How much is too much

Calcific uraemic arteriolopathy - A mini-review

Calcific Uraemic Arteriolopathy (CUA) or calciphylaxis, is a thrombotic disorder of skin and subcutaneous tissue which typically presents with painful purpuric nodules that may progress to necrotic ulcers, and is a severe, life-threatening condition. CUA is an uncommon clinical entity that affects mostly haemodialysis (HD) patients. Although the process of vascular calcification was initially thought to be the result of a passive deposition of calcium-phosphate crystals, current knowledge suggests a distinct mechanism, including cellular activity with differentiation of vascular smooth muscle cells (VSMCs) into chondrocyte as well as osteoblast-like cellular phenotypes and deficiencies in calcification inhibitors. Although multiple studies suggest a potential relationship between warfarin and CUA, larger prospective studies are needed in order to better evaluate this association, and randomised controlled trials are needed to assess the benefit of distinct interventions in this setting. In this article the topic of CUA is reviewed based on a clinical case of a 65-year-old man undergoing haemodialysis, who underwent an aortic valve replacement one year earlier, receiving a mechanical heart valve, and who has been under warfarin therapy since then

Increased peritoneal dialysis utilization and improved patient survival over a 20-year period: data from a Portuguese Peritoneal Dialysis Unit

Background: Peritoneal dialysis (PD) is an established renal replacement therapy, mainly performed at home. There is a general perception that the use of PD is declining worldwide. As countries look to develop dialysis programmes to manage the growing burden of end-stage renal disease (ESRD), it is important to place patterns of PD use in the global context. Although there has been an improvement in PD patient and technique survival over the last years, this modality still remains underutilized in Portugal. Objectives: The primary aim was to evaluate patient and technique survival in a single centre in Portugal over a 20-year period, comparing the last decade with the prior decade, and to identify clinically important factors that predict patient mortality and technique failure. The secondary aim was to determine the main reasons for patient dropout from PD. Methods: Historical cohort study including patients initiating PD between January 1992 and December 2012. Multivariate Cox regression models were developed using baseline candidate variables to predict all-cause mortality and technique survival. Results: A total of 184 patients were included (59.2% male, mean age 48.7 ± 16.9 years), on PD for 24.7 ± 21.2 months. There was an increase in PD use between the first and last decades (79 vs. 105 patients), especially in automated PD (48.1% vs. 60.0%). The main causes of PD drop out were death (34.2%), renal transplant (29.3%) and switch to HD (18.5%) due to inadequate ultrafiltration (38.2%), and peritonitis and access-related infections (29.4%). Patient survival at 5 years was 51.9% in the first decade, and 78.1% in the last decade (p < 0.001). The PD technique survival did not change from the first to the last decade. The presence of prior haemodialysis and diabetes mellitus were predictors of mortality. Conclusion: Over the last two decades, there has been an increase in PD use, and an improvement in patient survival in our Unit

Mineral metabolism and inflammation: factors related to left ventricular hypertrophy in patients with diabetic nephropathy

Left ventricular hypertrophy (LVH) is an important risk factor for cardiovascular disease in patients with diabetic nephropathy (DN) and is an independent predictor of mortality in patients with chronic kidney disease (CKD). The aim of this study was to evaluate the association of LVH with mineral metabolism and inflammation in a population of patients with DN. In an observational study were included 119 type 2 diabetic patients with CKD stages 3 and 4. The population was divided into two groups, according to the presence of LVH: group 1 (G-1) with LVH (left ventricular mass index (LVMI) > 125 g/m2 in male patients and LVMI > 110 g/m2 in female patients) and group 2 (G-2) without LVH (LVMI ≤ 125 g/m2 in male patients and LVMI ≤ 110 g/m2 in female patients). The patient characteristics of each group were compared regarding several biological and laboratory parameters. Patients with LVH displayed lower values of estimated glomerular filtration rate (eGFR) (p = 0.0001) and albumin (p = 0.046), and higher levels of phosphorus (p = 0.0001), intact parathyroid hormone (iPTH) (p = 0.0001), insulin resistance (HOMA-IR) (p = 0.0001) and interleukin-6 (IL-6) (p = 0.0001), compared with patients without LVH. In a logistic regression model, phosphorus (odd ratio (OR) = 1.825 (1.075-4.414), p = 0.038), iPTH (OR = 1.991 (1.098-3.000), p = 0.004) and IL-6 (OR = 3.538 (1.863-6.719), p = 0.0001) were independently related to LVH. In a multiple linear regression model, phosphorus (r = 0.602, p = 0.038), iPTH (r = 1.009, p = 0.044) and IL-6 (r = 1.264, p = 0.0001) were positively related to LVMI. Phosphorus, PTH and IL-6 were related to LVH in our diabetic population with CKD stages 3 and 4

Clinicopathological profile and prognosis of idiopathic membranous nephropathy in adults: a developing country perspective

Background: There is no study available from Pakistan on the longitudinal course of membranous nephropathy (MN). We aimed to analyse the clinicopathological profile, course, response to treatment and outcome of the disease in our setup. Methods: All consecutive adult patients (≥18 years) with MN on renal biopsy and on regular follow-up were included. Relevant data items were retrieved from case files and biopsy reports. The outcome variables included doubling of baseline serum creatinine or the development of end-stage renal disease (ESRD). Results: Of a total of 102 patients, 82 (80.4%) were males; mean age was 28.9±11.4 years. Peripheral oedema was present in 86 (84.3%), nephrotic-range proteinuria in 80 (78.4%), microscopic haematuria in 25 (24.5%), hypertension in 42 (41.2%), and renal dysfunction in 13 (12.7%) patients at the time of presentation. The mean follow-up period was 3±2 years. Overall, 22 (21.5%) subjects went into remission and a similar number experienced doubling of serum creatinine. Both conservative and immunosuppressive treatment groups had similar duration of follow-up. The proportion of patients with remission and doubling of serum creatinine was similar between the two groups (p=0.70 and p=0.91 respectively), while the proportion of patients progressing to ESRD was significantly higher in the group treated conservatively (p=0.03). Baseline proteinuria and serum creatinine were predictive of remission (p=0.04 and p=0.05 respectively). Conclusions: In conclusion, untreated MN has a higher risk of progression to ESRD. Baseline proteinuria and serum creatinine predict response to treatment. Randomised controlled trials are needed to confirm the effects of immunosuppressive treatment

Anderson-Fabry disease: Ten-year outcome of enzyme replacement therapy in a renaltransplant patient

Anderson-Fabry disease (AFd) is a rare disorder characterised by the deficiency or absence of lysosomal enzymatic alpha-galactosidase A activity (α-Gal A) that leads to progressive and systemic accumulation of glycosphingolipids. The clinical manifestations are variable but kidney disease usually manifests before the fourth decade of life and chronic renal failure rapidly progresses to end-stage renal disease (ESRD), requiring dialysis and kidney transplantation (KT). In patients with a definite diagnosis, enzyme replacement therapy (ERT) is recommended as soon as there are early clinical signs of kidney, heart or brain involvement. We present a case of a kidney transplant patient who was diagnosed with AFd nine years after KT, confirming the difficulty that may exist in an early diagnosis of this disease even among high-risk groups. At this stage, in addition to renal damage, the patient already had advanced disease and established organ injury, including ocular, pulmonary, cerebrovascular and cardiac. He started agalsidase beta (Fabrazyme®) intravenously every two weeks at a dose of 1 mg/kg body weight. During ten years of treatment no major adverse events were reported and our experience indicates that ERT is a safe and effective treatment for extra-renal Fabry manifestations in KT patients

Plasma exchange in hypertriglyceridaemic acute pancreatitis: case report

Severe hypertriglyceridaemia, defined as above 1000mg/dl, is the third most common cause of acute pancreatitis, and a potentially life-threatening condition. The prognosis depends greatly on our ability to rapidly reduce serum triglycerides concentration. We report a case of a 41-year-old male admitted to our Emergency Department with symptoms of nausea, vomiting and abdominal pain in the right upper quadrant, whose workup revealed the presence of an extremely severe hypertriglyceridaemia (triglycerides 16422 mg/dl), and acute oedematous non-lithiasic pancreatitis. Plasma exchange was initiated at admission and reduced triglycerides concentration to less than half. Two additional sessions of plasma exchange in the subsequent days, associated with pharmacological treatment of hypertriglyceridaemia, achieved a normal triglycerides level at discharge and allowed a favourable clinical evolution with rapid resolution of the pancreatitis

Everolimus in the treatment of giant renal angiomyolipoma associated with tuberous sclerosis

Tuberous sclerosis complex is an autosomal dominant disorder characterized by the development of multiple tumours in distinct organs, although the ones most frequently affected are the skin, central nervous system, kidney, lung and liver. The kidney is the third most frequently affected organ, and angiomyolipomas are the most common lesions. Two-thirds of patients have sporadic mutations of the genes responsible for the disease, called tuberous sclerosis complex 1 and 2, encoding hamartin and tuberin, respectively. Hamartin and tuberin are tumoural suppressor proteins that are engaged in the control of cell proliferation and differentiation. When the tuberous sclerosis complex 1-2 suffers mutation, the mammalian target of rapamycin complex 1 pathway is constitutively activated, leading to neoplastic growth. Everolimus is a drug that inhibits mammalian target of rapamycin pathway and it is being used successfully in the treatment of renal angiomyolipomas associated with tuberous sclerosis complex. The authors report a case of a 34-year-old woman with tuberous sclerosis and giant renal angiomyolipoma, who received everolimus 10 mg daily for 6 months, but this was not associated with a reduction in the angiomyolipoma volume. This case describes the use of a systemic therapy in a rare genetic disorder. Although the treatment with everolimus did not reduce the patients renal angiomyolipoma volume and, thus, was apparently ineffective, no new lesions, bleeding episodes or deterioration of the kidney function were observed, suggesting that everolimus may have prevented disease progression

A rare case of cutaneous involvement in atypical haemolytic uraemic syndrome successfully treated with eculizumab

Atypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, genetic disease, due to uncontrolled alternative pathway complement activation. Although the renal microvasculature appears to be the predominantly affected target, other organ pathology compatible with local thrombotic microangiopathy has been reported. Eculizumab is a humanized antibody therapy that has been associated with significant inhibition of complement-mediated thrombotic microangiopathy events in aHUS. In this report, we describe the rare case of a patient with relapsing atypical haemolytic uraemic syndrome, cutaneous manifestations of the thrombotic microangiopathy and we discuss the treatment with plasma exchange and eculizumab