Introduction: Urgent-start peritoneal dialysis (US-PD) has been proposed as a safe modality of renal replacement therapy (RRT) for end-stage renal disease (ESRD) patients with an indication for emergency dialysis initiation. We aimed to compare the characteristics, 30-day complications, and clinical outcomes of US-PD and planned peritoneal dialysis (Plan-PD) patients over the first year of therapy. Methods: This was a single-center retrospective study that included incident adult patients followed for up to one year. US-PD was considered when incident patients started therapy within 7 days after Tenckhoff catheter implantation. Plan-PD group consisted of patients who started therapy after the breaking period (15 days). Mechanical and infectious complications were compared 30 days from PD initiation. Hospitalization and technique failure during the first 12 months on PD were assessed by Kaplan-Meier curves and the determinants were calculated by Cox regression models. Results: All patients starting PD between October/2016 and November/2019 who fulfilled the inclusion criteria were analyzed. We evaluated 137 patients (70 in the US-PD x 67 Plan-PD). The main complications in the first 30 days were catheter tip migration (7.5% Plan-PD x 4.3% US-PD - p= 0.49) and leakage (4.5% Plan-PD x 5.7% US-PD - p=0.74). Most catheters were placed using the Seldinger technique. The main cause of dropout was death in US-PD patients (15.7%) and transfer to HD in Plan-PD patients (13.4%). The occurrence of complications in the first 30 days was the only risk factor for dropout (OR = 2.9; 95% CI 1.1-7.5, p = 0.03). Hospitalization rates and technique survival were similar in both groups. Conclusion: The lack of significant differences in patients’ outcomes between groups reinforces that PD is a safe and applicable dialysis method in patients who need immediate dialysis.

In this study, varying degrees of vacuolar degenerative tubular changes were present in all patients, but there were no signs of acute tubular necrosis. It seems that in the present study a prerenal cause of acute renal failure was the main involved mechanim to explain the cause of renal failure in these patients.

PRCA is a rare condition among patients on dialysis treated with rhEPO and should be considered as a possible cause of refractory anemia. Treating patients with PRCA may be challenging, since the specific management and diagnostic procedures needed in this condition are not always readily available.

MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts. Renal alterations were microhematuria, nephrotic-range proteinuria (up to 7.5 g/24h), and rapid loss of renal function. The decline per year of the glomerular filtration rate was 20 mL/min/1.73m2 for five years. Blockade of the renin-angiotensin system, the only recommended therapy for slowing the progression of this nephropathy, was prescribed. Although MYH9-related disease is a rare cause of glomerulopathy and end-stage renal disease, awareness of rare genetic kidney disorders is essential to ensure accurate diagnosis and proper management of orphan disease patients.

There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field. Molecular testing has become more accessible, our understanding of the underlying pathophysiologic mechanisms of these diseases has evolved, and new therapeutic strategies have become more available. Therefore, the role of nephrologists has progressively shifted from a mere spectator to an active player, part of a multidisciplinary team in the diagnosis and treatment of these disorders. This article provides an overview of the recent advances in rare hereditary kidney disorders by discussing the genetic aspects, clinical manifestations, diagnostic, and therapeutic approaches of some of these disorders, named familial focal and segmental glomerulosclerosis, tuberous sclerosis complex, Fabry nephropathy, and MYH-9 related disorder.

Introduction: Pseudoporphyria is a rare photodermatosis with characteristics similar to those of porphyria cutanea tarda, without, however, presenting abnormalities in porphyrin metabolism. Its etiology is related to chronic kidney disease, ultraviolet radiation and certain medications. The aim of the present study is to describe a case of furosemide-related pseudoporphyria in a patient with chronic kidney disease. Case description: A 76-year-old male patient with stage 4 chronic kidney disease and in continuous use of furosemide presented ulcerated lesions with peripheral erythema and central hematic crust in the legs. On a skin infection suspicion, treatment with quinolone and neomycin sulfate was initiated, without improvement. A biopsy of the lesion was performed, with histopathological examination demonstrating findings compatible with porphyria, although the patient did not present high porphyrin levels. The diagnosis of furosemide-induced pseudoporphyria was then established, with medication suspension, and there was a significant improvement of the lesions. Discussion: There are few cases of pseudoporphyria described, but it is believed that this condition is underdiagnosed, especially in patients with chronic kidney disease. Both clinical and histopathological findings closely resemble porphyria, differentiating it from normal levels of porphyrin in plasma, urine, or feces. Conclusions: Although the lesions are mostly benign, they may increase the morbidity and mortality of these patients, so a proper diagnosis and early treatment are extremely important.

BACKGROUND AND AIMS Peritoneal dialysis (PD) has been used as a renal replacement therapy for end-stage kidney disease patients in different initiation patterns: urgent, early and planned start PD. The indication of PD initiation is mainly based on the presence or not of signs and symptoms that would indicate dialysis urgent initiation and in the possibility of patients receive pre-dialysis when they would plan RRT initiation when necessary. Our aim was to evaluate if the PD initiation modality interfere in patients’ 30- and 180-day outcomes and in the technique survival. METHOD This is a single-center retrospective study that included incident adult patients starting PD between October 2016 and March 2021. Exclusion criteria were: (i) have done previously PD, (ii) patients younger < 18 years old and (iii) missing data related to main outcomes analysed. US-PD group was considered those incident patients starting therapy with some urgent indication and within 3 days after Tenckhoff catheter implantation, ES-PD group was those patients who had previously received urgent hemodialysis (HD) and started PD between 3 and 14 days and, Plan-PD group consisted of patients who started therapy after the breaking period (15 days). Complications and hospitalization due to all cause were compared 30 and 180 days from PD initiation. Technique survival during the first 180 days on PD were assessed by Kaplan–Meier curves. RESULTS During the period mentioned earlier 280 patients started PD. In these analyses 201 patients were included. Mean age was 58.4 ± 15.2 years old, most part of patients were female (51.7%) and considered themselves as white race (92%). The most common etiology for kidney disease was diabetes (32%). Most part of patients had arterial hypertension and diabetes as main comorbidities (88.6% and 48.3%). Considering the PD initiation, 62 (30.8%) patients started PD urgently, 84 (41.8%) patients had an earlier start and 55 (27.4%) started PD planned. Patients have similar characteristics regarding demographics, comorbidities, and cause of renal disease. Patients in the ES-PD group had higher prevalence of heart failure and coronary arterial disease compared to the others (P = 0.03 and 0.08, respectively). Regarding complications in the first 30 days on PD, the most common complication was mechanical ones such as leakage and catheter tip migration and the incidence of these did not differ from PD initiation modalities. The US and ES-PD groups presented a greater incidence of hospitalization events in the first 30 days compared with the Plan-PD group [8 (13.6%) events US-PD, 16 (19.3%) ES-PD and 1 (0.5%) Plan-PD—P = 0.04], most part of them not related to PD. Complication and hospitalization events were similar in all groups in 180 days on therapy. Patients on the ES-PD group had a higher percentage of transfer to HD during the first 180 days. Technique survival was similar between groups (US-PD 85.2%, ES-PD 77.1% and Plan-PD 88.7%—log-rank P = 0.18) in 180 days follow-up (Fig. 1). Death and transfer to HD were the most common causes for dropout, mainly in the ES-PD group [9 (10.7% deaths and 12 (14.3%) transfer to HD]. CONCLUSION The study demonstrates similar complications after 30 days PD initiation regardless of type of PD initiation, greater hospitalization events in the ES-PD group after 30 days, which can be related to the patients’ characteristics. Similar complications, hospitalizations, and technique survival after 180 days on PD we found for both groups.

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