Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease.

Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive inherited diseases. Most patients exhibit albinism with nystagmus, visual acuity loss, and a platelet storage pool deficiency with bleeding diathesis. The severity and variety of other clinical features depend on the HPS subtype. We report a 24-year-old male with end-stage renal disease (ESRD) of unknown etiology and a history of oculocutaneous albinism and bleeding diathesis. Two of his siblings also had oculocutaneous albinism. The diagnostic workup for renal impairment was unremarkable. Further genetic testing revealed a homozygous novel nonsense mutation in the HPS6 gene. Additionally, a heterozygous variant of uncertain significance was identified in the HPS5 gene. Renal failure is an uncommon clinical feature of HPS. To our knowledge, this is the first case that describes the association of HPS types 5 and 6 with renal failure.

Clinico-Pathological Outcomes of Patients With Crescentic Glomerulonephritis: A Single-Center Study.

Background Crescentic glomerulonephritis (CrGN) is a pathological description of rapidly progressive glomerulonephritis (RPGN). It is characterized by renal failure and is associated with a grave prognosis. This study aimed to investigate the clinical outcomes of patients diagnosed with crescentic glomerulonephritis at the King Abdulaziz University Hospital (KAUH) in Jeddah, Saudi Arabia. Method This retrospective study included patients with CrGN who underwent treatment at the nephrology department at KAUH from June 2021 to August 2022. We collected and analyzed data from 56 patients diagnosed with CrGN on the basis of renal biopsies between 2002 and 2015. Result The study included 17 cases of CrGN. The mean age of patients at the time of diagnosis was 18.06 ± 13.49 years. The distribution of histological findings showed that cellular crescents (94.1%) and interstitial fibrosis and tubular atrophy (IFTA) (76.5%) were the most commonly observed histological findings. The most common underlying etiology was lupus nephritis (41.2%). Regarding the lab results, the mean serum creatinine level at admission was 378.88 ± 273.27 µmol/L, proteinuria was 1.53 ± 1.23 and glomerular filtration rate (GFR) level was 36.94 ± 45.08 mL/min. The factors associated with poor renal outcome were IFTA (P=0.01), phosphate level before discharge, serum creatinine level before and after discharge (P=0.032), and GFR level after discharge (P=0.001). Conclusion Crescentic glomerulonephritis is an important cause of acute kidney injury due to its potential to result in severe glomerular injury. In our study, 12 out of 17 patients experienced poor renal outcomes, which were associated with a high risk of morbidity and mortality. Therefore, early detection and treatment of CrGN is crucial in order to manage the disease.

Impact of Early Nephrology Referral on the Outcomes of Patients with Acute Kidney Injury.

Background: Acute kidney injury (AKI) is associated with an increase in patient mortality and high rates of renal/non-renal complications. Late detection of the disease has been associated with worse prognosis, but no such study has been conducted from Saudi Arabia. Objectives: To assess the impact of early nephrology referral on the outcomes of patients with AKI. Methods: This retrospective record review included all adult patients (≥18 years) with AKI who were referred to the Nephrology Department at King Abdulaziz University Hospital, Jeddah, Saudi Arabia, between May 2019 and July 2020. AKI was defined according to the Kidney Disease Improving Global Outcomes criteria. AKI patients evaluated by nephrologists were stratified into early referral group (i.e., referral in <48 h from the first detection of AKI) and late referral group (referral ≥48 h after the first detection of AKI). Results: A total of 400 patients met the inclusion criteria, of which 264 (66%) were early referrals. A significant association was found between delayed referral and mortality rates and length of hospital stay (for both,P= 0.001). Late referral was also significantly associated with increased likeliness of the need for renal replacement therapy (P = 0.037) and sepsis (P = 0.005). Conclusions: The outcomes were worse for patients with AKI receiving late referrals to nephrologists. Raising the awareness of AKI among non-nephrologists would likely increase the proportion of earlier referrals.

Histopathological and Clinical Findings of Biopsy-Proven Focal and Segmental Glomerulosclerosis: A Retrospective Study.

Background Focal segmental glomerulosclerosis (FSGS) is characterized by the presence of glomerular damage on histopathological examination. The major defining symptom of FSGS is proteinuria, which indicates damage to the glomerular filtration barrier. Additionally, FSGS is the most common cause of primary nephrotic syndrome. However, in Saudi Arabia, there is a paucity of research on this topic. Therefore, this study was designed to examine the clinical features, laboratory findings, and presence of comorbidities in patients with FSGS to determine their effects on clinical outcomes. Methods We retrospectively analyzed the histopathological and clinical data of patients diagnosed with FSGS via biopsy at King Abdulaziz University Hospital, Jeddah, Saudi Arabia, during the period 1989-2020. Biopsy samples were labeled according to the Columbia classification as tip, perihilar, cellular, collapsing, or not otherwise specified (NOS). Results We included 39 children and 21 adults. Males accounted for 54.1% of the sample. Hypertension was the most common comorbidity. Regarding FSGS subtypes, 60.9% of the lesions in the adult patients were collapsing lesions, followed by NOS (26.1%). In pediatric patients, 36.8% of the lesions were NOS, followed by collapsing lesions (28.9%). We also observed a very low rate of remission. In both age groups, the most common clinical presentation was nephrotic syndrome. Conclusion We found a high prevalence of collapsing and NOS FSGS subtypes in both the adult and pediatric age groups. The most prevalent outcome was the persistence of nephrotic syndrome with low rates of remission.

The Effect of Body Mass Index on the Degree of Renal Interstitial Fibrosis and Tubular Atrophy - A Retrospective Case-Control Study.

Introduction The degree of interstitial fibrosis and tubular atrophy (IFTA) seen on kidney biopsy has long been used to judge the chronicity of kidney disease to predict renal disease outcomes and prognosis. It is an essential component incorporated in many renal disease prognostic classification systems on the native and renal allograft. The impact of increased body mass index on the body metabolism, and the human vascular system, including the functional unit of the kidney, the nephron, is well-addressed in the literature. In this study, we focus on evaluating the degree of IFTA concerning the patient's body mass index (BMI). Method All the specimens of nephrectomies performed in King Abdulaziz University Hospital for adults from January 2010 to February 2021 were evaluated for this study. A total of 125 cases were selected for the study. The glass slides were pulled and assessed for the degree of IFTA. The demographic data, and the patient's BMI, were collected from the hospital records. Results Subjects with high BMI showed a 1.62 (OR: 1.62, 95% CI: 0.62, 4.22) and 1.52 (AOR: 1.52, 95% CI: 0.56, 4.13) increased risk of high IFTA score compared with those with normal BMI. This study has proved that only at a BMI of 25 or more will there be a measurable, independent effect on the degree of IFTA. Conclusion Although a small number of hospital-based populations limits this study, it could prove the increased severity of IFTA in patients with high BMI. Its result may act as a spark that will drive extensive population-based studies that more precisely delineate the relationship between BMI and the degree of IFTA on different levels.

Barriers to Kidney Transplantation among Adults on Maintenance Dialysis in Western Region Saudi Arabia: A Cross-Sectional Study.

Kidney transplantation (KT) is the treatment of choice for patients with end-stage renal disease. However, in Saudi Arabia, KT accounts for only 4.5% of the total existing renal replacement therapies in 2016. This cross-sectional study was conducted from September 2017 to January 2018. The aim was to assess the main barriers to the low KT rate in the Saudi community. Data were obtained by direct interviewing using a specifically pre-coded and pre-tested online questionnaire. A total of 321 adult hemodialysis and peritoneal dialysis (PD) (hemodialysis and PD, respectively) patients eligible for KT were selected from several dialysis units in Jeddah, accounting for 11% of the total dialysis population in Jeddah. The mean age was 49.9 ± 14.9 years, and 62.1% were male. Twenty-six percent were employed, and 88.2% were Saudis. Of those interviewed, 90.7% had been counseled for KT mostly by the nephrologist (86.5%) and 178 (55.5%) were referred for pre-transplant evaluation and 92 (28.6 %) were on the active transplant list. The most common barriers were lack of donor availability for 107 patients (40.5%), 58 patients (22%) worried about long-term complications, and 24 (9.1%) worried about surgical complications. Only 17 patients (6.4 %) reported financial constraints as the main reason for not having a KT, especially in non-Saudi patients. Additional initiatives to promote and improve the education and knowledge about kidney donation and the current outcome of KT is needed to improve the transplant rate in the country.

Immunoglobulin A (IgA) Nephropathy: A Clinicopathologic Study in a Tertiary Care Center in Saudi Arabia.

BACKGROUND: Immunoglobulin A nephropathy (IgAN) is the most common primary aetiology of glomerulonephritis worldwide, and it is the most important type in terms of morbidity and mortality. IgAN involves the deposition of immune bodies in the mesangial cells of the kidney, which causes renal glomerular damage, haematuria, proteinuria, and various other symptoms. Previous studies have mainly focused on the East Asian population, with few studies conducted in Saudi Arabia, particularly in the western region. The diagnosis requires a biopsy, which should be examined by an expert and classified according to the Oxford classification system. OBJECTIVES: Analyze the clinical, pathological, and laboratory features of male and female patients diagnosed with IgAN at King Abdulaziz University Hospital (KAUH). METHODS AND MATERIALS: This was a retrospective record review conducted at KAUH in Jeddah, Saudi Arabia between May-June 2021. The study included 18 patients diagnosed with IgAN by biopsy, and their clinical, laboratory and pathological data were evaluated and classified according to the Oxford classification system. RESULTS: Demographic data revealed a male predominance of 66.7%. The most common pathological finding was mesangial proliferation, and the most common presentation was haematuria. For treatment options, corticosteroids were the most prescribed drugs. A significant relationship was found between IgAN with increased serum creatinine and male sex (P = 0.017). Additionally, a significant relationship was observed between decreased estimated glomerular filtration rate (eGFR) in IgAN and the male sex (P = 0.006). CONCLUSIONS: We found a difference in terms of pathological, clinical and laboratory presentations of IgAN between males and females. Men generally had worse kidney function at presentation and advanced Oxford classification in their kidney biopsies compared to women.

Renal histopathology spectrum in children with kidney diseases in Saudi Arabia, 1998-2017.

OBJECTIVES: To identify the trends in the diagnostic frequency of glomerular disease subtypes by renal biopsy in children in Saudi Arabia over the last 20 years. METHODS: In this retrospective observational study, we identified all patients aged less than 18 years for whom native kidney biopsy was performed between 1998 and 2017. The period during which biopsy was performed (1998-2004, 2005-2011, and 2012-2017) and the demographic information and their association with the prevalence of various glomerular disease subtypes were our primary outcomes. Results: A total of 326 cases with renal biopsy were analyzed; the mean age of participants being 11 years and 45.4% of them were girls. Unexpectedly, secondary glomerulonephritis accounted for 42.3% of the cases, and lupus nephritis was the most common cause noted in 20.7% of the cases. The minimal change and focal segmental glomerulosclerosis were the most common glomerulonephritis in 59% of the cases. The frequency of membranoproliferative glomerulonephritis and mesangioproliferative glomerulonephritis significantly decreased from 15% and 17% in the period prior to 2004 to 3.3% (p=0.003) and 1.7% in 2012-2017 (p less than 0.001). CONCLUSIONS: We found a considerable shift in the frequency of many glomerular disease subtypes in 1998-2017, which make clinical predication of the underlying etiology challenging for clinician. Renal biopsy still remains a critical diagnostic procedure for managing a considerable proportion of renal diseases.

Lipids, Lipoprotein Distribution and Nutritional Parameters over the Ramadan Period in Hemodialysis Patients.

The period of Ramadan (R) is associated with dramatic changes in eating habits involving extended periods of fasting on a daily basis. The current study assessed whether lipids and lipoproteins were impacted during R in chronic hemodialysis (HD) patients. Forty-five subjects in an outpatient dialysis clinic in Saudi Arabia were evaluated for anthropometric and lipid changes on a monthly basis before, during as well as one and two months after R. In addition to routine biochemical measures, anthropometric assessments including hand-grip strength (HGS), mid-arm muscle circumference (MAMC), plasma lipids and lipoproteins were evaluated. Dietary assessment was carried out using 24 h recalls. Over the course of the study, changes in renal-related parameters (creatinine, albumin, Kt/V) were minor, as were changes in plasma lipids. Large high-density lipoproteins (HDLs) and low-density lipoproteins (LDLs) accounted for the majority of their respective lipoproteins and their proportions did not change over the study period. Mean LDL particle diameters were higher during the R period, but the changes over the study period were small. Calorie intake during R (2139 ± 709 kcal/d) was significantly higher than the value noted two month post-R (1755 ± 424 kcal/d) and this was associated with significant increases in protein (69 ± 24 vs. 60 ± 24 g/d) and fat (97 ± 38, vs. 73 ± 35 g/d), respectively. No changes were noted with respect to HGS and MAMC. These data show that for HD patients, the period of R results in temporal or non-significant effects on plasma lipids, despite changes in nutrient intake.

Prevalence and 20-year epidemiological trends of glomerular diseases in the adult Saudi population: a multicenter study.

BACKGROUND: Recent international reports have shown significant changes in the incidence of different glomerular diseases. OBJECTIVE: Examine temporal and demographic trends of biopsy-diagnosed glomerular diseases in the adult population of Saudi Arabia over the last two decades. DESIGN: Medical record review. SETTINGS: Four tertiary medical centers in Saudi Arabia. PATIENTS AND METHODS: We identified all patients that underwent native kidney biopsy between 1998 and 2017. MAIN OUTCOME MEASURES: The frequency and the disease trends in four biopsy eras (1998-2002, 2003-2007, 2008-2011, and 2012-2017) for different glomerular diseases. SAMPLE SIZE AND CHARACTERISTICS: 1070 patients, 18-65 years of age; 54.1% female. RESULTS: Of 1760 patients who underwent native kidney biopsies, 1070 met inclusion criteria. Focal segmental glomerulosclerosis was the most common biopsy-diagnosed disease, with comparable frequencies over the four eras (23.6%, 19.8%, 24.1%, and 17.1, respectively [ P value for trend=.07]). The frequency of immunoglobulin A nephropathy increased progressively. The incidence of membranoproliferative glomerulonephritis declined significantly. Among the secondary types of glomerular diseases, systemic lupus erythematosus-associated lupus nephritis was the most common, followed by diabetic nephropathy. The prevalence of diabetic nephropathy increased from 1.4% in the first era to 10.2% in the last one. CONCLUSIONS: Trends in biopsy-diagnosed glomerular disease have changed. While focal segmental glomerulosclerosis remains the most common glomerular disease, there has been a significant rise in the prevalence of immunoglobulin A nephropathy and diabetic nephropathy. In contrast, membranoproliferative glomerulonephritis has declined. LIMITATIONS: Retrospective methodologies are vulnerable to lost data. CONFLICT OF INTEREST: None.

Hospitalization rate and outcomes in patients with left ventricular dysfunction receiving hemodialysis.

INTRODUCTION: Left ventricular dysfunction (LVD) is characterized as left ventricular ejection fraction (EF) below half of the systolic capacity of the left ventricle. Patients on hemodialysis have higher risk of developing LVD than the general population. Our aim was to assess hospitalization rate and outcomes in hemodialysis patients with LVD. PATIENTS AND METHODS: All patients ≥18 years old, who started hemodialysis therapy at King Abdulaziz University Hospital between January 2011 and December 2011, were identified using medical records of hemodialysis unit. Patients were then divided into three groups, according to their EF results prior to the initiation of hemodialysis, as patients with EF <40%, EF between 40% and 49%, and EF ≥50%. Patients were then followed for 5 years by reviewing their hospital records to assess their outcomes, hospital admissions, and length of hospital stay. RESULTS: Analysis included 333 patients. Patients with EF <40% were 40, 36 patients with EF 40%-49%, and 257 patients had an EF >50%. Patients with EF <50% were significantly older than patients with EF >50% (P=0.002). Diabetes mellitus and hypertension were more prevalent in patients with EF <40% and EF 40%-49% when compared with patients with EF >50% (P<0.001, P=0.002). The average length of stay between the three groups was significantly different (P=0.007). Intensive care unit admissions were significantly different when comparing the three groups (P=0.013) and was found to be an independent risk factor for mortality in our patients. Half of the patients with EF <40% and 44% of patients with EF of 40%-49% died compared with only 27% of patients with EF >50% (P=0.002). However, Kaplan-Meier analysis showed no significant difference in the survival time among the three groups (P=0.845). CONCLUSION: Mortality and morbidity increased in patients with LVD on hemodialysis compared with patients with normal EF.

Depression in patients with chronic kidney disease on dialysis in Saudi Arabia.

OBJECTIVE: Patients with chronic kidney disease on hemodialysis experience considerable psychological stress due to physical and social changes brought on by illness, increasing the risk of depressive disorder (DD). We examined the prevalence of DD and depressive symptoms, identified treatments for depression, and determined baseline demographic, social/behavioral, physical, and psychological correlates. METHODS: A convenience sample of 310 dialysis patients in Jeddah, Saudi Arabia, was screened for DD using the Structured Clinical Interview for Depression and for depressive symptoms using the Hamilton Depression Rating Scale (HDRS). Established measures of psychosocial and physical health characteristics were administered, along with questions about current and past treatments. Bivariate and multivariate analyses identified independent correlates of DD and symptoms. RESULTS: The prevalence of DD was 6.8 % (major depression 3.2 %, minor depression 3.6 %), and significant depressive symptoms were present in 24.2 % (HDRS 8 or higher). No patients with DD were being treated with antidepressant medication, whereas 28.6 % (6 of 21) were receiving counseling. Being a Saudi national, married, in counseling, or having a history of antidepressant were associated with DD in bivariate analyses. Correlates of depressive symptoms HDRS in multivariate analyses were Saudi nationality, marital status, stressful life events, poor physical functioning, cognitive impairment, overall severity of medical illness, and history of family psychiatric problems. CONCLUSIONS: The prevalence of DD and depressive symptoms is lower in Saudi dialysis patients than in the rest of the world, largely untreated, and is associated with a distinct set of demographic, psychosocial, and physical health characteristics.