The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal monogenic disease, characterized by bilateral accumulation of renal fluid-filled cysts leading to progressive renal volume enlargement and gradual impairment of kidney function, often resulting in end-stage renal disease. Kuwait could provide valuable genetic insights about ADPKD, including intrafamilial phenotypic variation, given its large household size. This study aims to provide a comprehensive description of the pathogenic variants linked to ADPKD in the Kuwaiti population using multiple genetic analysis modalities and to describe and analyse the ADPKD phenotypic spectrum in terms of kidney function, kidney volume and renal survival.

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and is caused by mutations in PKD1 or PKD2 genes. ADPKD genetic diagnosis is complicated by PKD1 pseudogenes located proximal to the original gene with a high degree of homology. The next generation sequencing (NGS) technology including whole exome sequencing (WES) and whole genome sequencing (WGS), is becoming more affordable and its use in the detection of ADPKD mutations for diagnostic and research purposes more widespread.

Utilizing Estimated Creatinine Excretion to Improve the Performance of Spot Urine Samples for the Determination of Proteinuria in Kidney Transplant Recipients.

Background: Agreement between spot and 24-hour urine protein measurements is poor in kidney transplant recipients. We investigated whether using formulae to estimate creatinine excretion rate (eCER), rather than assuming a standard creatinine excretion rate, would improve the estimation of proteinuria from spot urine samples in kidney transplant recipients.

Methods: We measured 24 hour urine protein and albumin and spot albumin:creatinine (ACR) and spot protein:creatinine (PCR) in 181 Kidney transplant recipients.

A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.

Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progression and extra-renal manifestations, which suggests the involvement of heritable modifier genes. Here we show that the PKD1 gene can act as a disease causing and a disease modifier gene in ADPKD patients.

Single nucleotide polymorphisms at erythropoietin, superoxide dismutase 1, splicing factor, arginine/serin-rich 15 and plasmacytoma variant translocation genes association with diabetic nephropathy.

A number of genes have been identified in diabetic nephropathy. Association between diabetes-associated nephropathy and polymorphisms in the erythropoietin (EPO) gene, variants in the superoxide dismutase 1 (SOD1) gene and plasmacytoma variant translocation 1 (PVT1) gene have been identified. The EPO, SOD1:SFRS15 and PVT1 genes were genotyped using the single nucleotide polymorphism (SNP) technique in 38 diabetic nephropathy patients (Group 1) compared with 64 diabetic type 2 subjects without nephropathy (Group 2) at the Mubarak Alkabeer Hospital, Kuwait.

Clinical and histopathological spectrum of IgA nephropathy in Kuwait.

Background: Little is known about the nature and the course of IgA nephropathy (IgAN) in Arab countries. The aim of this work was to study the spectrum of clinical presentation and histopathological findings at our institution.

Design And Setting: Retrospective review, all renal biopsies at the Mubarak Al Kabeer Hospital between January 2000 and December 2004.

Can continuous venovenous hemofiltration prevent contrast-agent induced nephropathy in patients with advanced chronic kidney disease after coronary angiography?

To determine whether contrast induced nephropathy (CIN) post coronary angio-graphy procedure can be prevented in chronic kidney disease (CKD) patients by continuous venovenous hemofiltration (CVVH), we evaluated 98 CKD patients [52 (53.1%) were males, the mean age was 60.7 ± 11.

Renal biopsy in patients with type 2 diabetes mellitus: indications and nature of the lesions.

Background And Objectives: The prevalence of non diabetic renal disease (NDRD) among patients with type 2 diabetes mellitus varies widely depending on the selection criteria and the populations being studied. The aim of this study was to evaluate the renal biopsies performed on type 2 diabetic patients for suspicion of NDRD and to correlate the pathological with the clinical and laboratory findings.

Subjects And Methods: We selected and reviewed biopsies performed on type 2 diabetics for clinically suspected NDRD from January 2006 to December 2008 at a single hospital.

Estimating GFR using serum beta trace protein: accuracy and validation in kidney transplant and pediatric populations.

The limitations of estimates of glomerular filtration rate (GFR) based only on serum creatinine measurements have spurred an interest in more sensitive markers of GFR. Beta-trace protein (BTP), a low-molecular-weight glycoprotein freely filtered through the glomerular basement membrane and with minimal non-renal elimination, may be such a marker. We have recently derived two GFR estimation equations based on BTP.

Effect of clinical variables and immunosuppression on serum cystatin C and beta-trace protein in kidney transplant recipients.

Background: Cystatin C and beta-trace protein (BTP) are low-molecular-weight proteins that have generated interest as alternative endogenous markers of glomerular filtration rate (GFR). Studies examining the effect of demographic, biometric, clinical, and biochemical variables on cystatin C levels have yielded conflicting results, perhaps because of the reliance on inferior methods of GFR determination. The aim of this study is to examine the independent effect of various clinical parameters on serum concentrations of creatinine, cystatin C, and BTP in kidney transplant recipients.

Acute renal failure in pediatric patients: etiology and predictors of outcome.

Acute renal failure (ARF) is the acute loss of kidney function over hours or days, the etiology of which varies in different countries. The data on the etiology and outcome of ARF in Arab children is limited. Our objective was to define the causes and predictors of outcome of ARF in Kuwaiti children, and the variables determining their fitness for dialysis.

A novel equation to estimate glomerular filtration rate using beta-trace protein.

Background: Beta-trace protein (BTP) is a low molecular weight glycoprotein that is a more sensitive marker of glomerular filtration rate (GFR) than serum creatinine. The utility of BTP has been limited by the lack of an equation to translate BTP into an estimate of GFR. The objectives of this study were to develop a BTP-based GFR estimation equation.

Chronic kidney disease management: comparison between renal transplant recipients and nontransplant patients with chronic kidney disease.

Background/aim: Renal transplant recipients (RTR) and patients with native chronic kidney disease (CKD) have similar complications. It is not known how the management of CKD in RTR differs from that of patients with native CKD. This study compares the management of complications related to CKD between RTR and patients with native CKD.

Chronic kidney disease stage in renal transplantation classification using cystatin C and creatinine-based equations.

Background: Current clinical guidelines recommend that renal transplant recipients (RTRs) be classified into chronic kidney disease (CKD) stage using a creatinine-based estimate of glomerular filtration rate (GFR). However, creatinine-based equations are inaccurate in RTRs leading to frequent CKD stage misclassification. It is not known whether the classification of CKD stage would be improved using a cystatin C-based estimate of GFR.

Estimating glomerular filtration rate in kidney transplantation: a comparison between serum creatinine and cystatin C-based methods.

Accurate measurement of GFR is critical for the evaluation of new therapies and the care of renal transplant recipients. Although not accurate in renal transplantation, GFR is often estimated using creatinine-based equations. Cystatin C is a marker of GFR that seems to be more accurate than creatinine.

Calcineurin inhibitor withdrawal from sirolimus-based therapy in kidney transplantation: a systematic review of randomized trials.

Calcineurin inhibitor (CNI) withdrawal has been used as a strategy to improve renal allograft function, however, it also carries risk of acute rejection. We conducted a systematic review of randomized trials that involved CNI withdrawal from a sirolimus-based immunosuppressive regimen. The search strategy yielded six trials (n = 1047 patients) reported in eight publications.

Zopiclone-induced acute interstitial nephritis.

Zopiclone, a relatively new nonbenzodiazepine short-acting hypnotic medication is prescribed frequently for insomnia. The authors report a case of zopiclone-induced acute interstitial nephritis in a young, otherwise healthy man. The patient presented with anuric acute renal failure requiring hemodialysis.