IntroductionLittle is known about the pattern and outcome of Acute Kidney injury (AKI) in Sudan. This study aimed to determine the etiology and outcome of AKI among Sudanese adults.MethodsA retrospective cohort study was conducted in a tertiary level hospital, Soba University Hospital, Sudan. The medical records of all adults admitted to hospital from the 1st of January to 31st of December 2014 were reviewed. The diagnosis and severity of AKI was defined as per the Kidney Disease Improving Global Outcomes (KDIGO) recommendations.ResultsThe medical records of 6769 patients were reviewed. AKI was diagnosed in 384 patients (5.7%); being community acquired in 82.6% of cases. Sepsis, volume depletion, obstructive uropathy, heart failure, acute glomerulonephritis and severe malaria were the commonest causes of AKI diagnosed in 44%, 38.5%, 8.9%, 5.7%, 4.7% and 3.1% of patients, respectively. Following treatment complete renal recovery was seen in 35.7% of patients; whereas 31.2% of patients died. Predictors of increased risk of death were old age [OR 1.03, 95% CI (1.01-1.057); P=0.003], presence of chronic liver disease [OR 2.877, 95% CI (1.5-5.5); P=0.001], sepsis [OR 2.51, 95% CI (1.912-4.493);P=0.002] and the severity of AKI [OR 3.873, 95% CI(1.498-10.013);P=0.005].ConclusionAKI was diagnosed in 5.7% of adults admitted to hospital. Most patients were having community acquired AKI. Old age, the presence of chronic liver disease, sepsis, and the severity of AKI as per KDIQO staging were significant predictors of mortality.

Background and aims Genetic testing presents a unique opportunity for diagnosis and management of genetic kidney diseases (GKD). Here, we describe the clinical utility and valuable impact of a specialized GKD clinic, which uses a variety of genomic sequencing strategies. Methods In this prospective cohort study, we undertook genetic testing in adults with suspected GKD according to prespecified criteria. Over 7 years, patients were referred from tertiary centres across Ireland to an academic medical centre as part of the Irish Kidney Gene Project. Results Among 677 patients, the mean age was of 37.2 ± 13 years, and 73.9% of the patients had family history of chronic kidney disease (CKD). We achieved a molecular diagnostic rate of 50.9%. Four genes accounted for more than 70% of identified pathogenic variants: PKD1 and PKD2 (n = 186, 53.4%), MUC1 (8.9%), and COL4A5 (8.3%). In 162 patients with a genetic diagnosis, excluding PKD1/PKD2, the a priori diagnosis was confirmed in 58% and in 13% the diagnosis was reclassified. A genetic diagnosis was established in 22 (29.7%) patients with CKD of uncertain aetiology. Based on genetic testing, a diagnostic kidney biopsy was unnecessary in 13 (8%) patients. Presence of family history of CKD and the underlying a priori diagnosis were independent predictors (P < 0.001) of a positive genetic diagnosis. Conclusions A dedicated GKD clinic is a valuable resource, and its implementation of various genomic strategies has resulted in a direct, demonstrable clinical and therapeutic benefits to affected patients. Graphical abstract

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Background Dent's disease type 1 (DD1) is a rare X-linked nephropathy caused by CLCN5 mutations, characterized by proximal tubule dysfunction, including low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrolithiasis-nephrocalcinosis, progressive chronic kidney disease (CKD) and kidney failure (KF). Current management is symptomatic and does not prevent disease progression. Here we describe the contemporary DD1 picture across Europe to highlight its unmet needs. Methods A physician-based anonymous international e-survey supported by several European Nephrology Networks/Societies was conducted. Questions focused on DD1 clinical features, diagnostic procedure and mutation spectrum. Results Two-hundred seven DD1 male patients were reported, being clinical data available for 163 with confirmed CLCN5 mutations. Proteinuria was the most common leading manifestation (49.1%). During follow-up, all patients showed LMWP, 66.4% nephrocalcinosis, 44.4% hypercalciuria and 26.4% nephrolithiasis. After 5.5 years, ∼50% of patients presented renal dysfunction, 20.7% developed CKD ≥ 3, and 11.1% KF. At last visit, hypercalciuria was more frequent in pediatric patients than in adults (73.4% vs. 19.0%). Conversely, nephrolithiasis, nephrocalcinosis and renal dysfunction were more prominent in adults. Furthermore, CKD progressed with age. Despite no clear phenotype/genotype correlation was observed, decreased glomerular filtration rate was more frequent in subjects with CLCN5 mutations affecting the pore or CBS domains compared to those with early-stop mutations. Conclusions Results from this large DD1 cohort confirm previous findings and provide new insights regarding age and genotype impact on CKD progression. Our data strongly support that DD1 should be considered in male patients with CKD, nephrocalcinosis/hypercalciuria and non-nephrotic proteinuria and provide additional support for new research opportunities.