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Nephrotic syndrome arising from monogenic mutations differs substantially from acquired ones in their clinical prognosis, progression, and disease management. Several pathogenic mutations in the COQ8B gene are known to cause nephrotic syndrome. Here, we used the whole-exome sequencing (WES) technology to decipher the genetic cause of nephrotic syndrome (CKD stage-V) in a large affected consanguineous family. Our study exposed a novel missense homozygous mutation NC_000019.9:g.41209497C > T; NM_024876.4:c.748G > A; NP_079152.3:p.(Asp250Asn) in the 9th exon of the COQ8B gene, co-segregated well with the disease phenotype. Our study provides the first insight into this homozygous condition, which has not been previously reported in 1000Genome, ClinVar, ExAC, and genomAD databases. In addition to the pathogenic COQ8B variant, the WES data also revealed some novel and recurrent mutations in the GLA, NUP107, COQ2, COQ6, COQ7 and COQ9 genes. The novel variants observed in this study have been submitted to the ClinVar database and are publicly available online with the accessions: SCV001451361.1, SCV001451725.1 and SCV001451724.1. Based on the patient's clinical history and genomic data with in silico validation, we conclude that pathogenic mutation in the COQ8B gene was causing kidney failure in an autosomal recessive manner. We recommend WES technology for genetic testing in such a consanguineous family to not only prevent the future generation, but early detection can help in disease management and therapeutic interventions.

BACKGROUND: HBV and HCV infections pose a great threat to patients on hemodialysis and studies have been conducted regarding the prevalence and seroconversion rates. The present study was conducted to demonstrate the prevalence and seroconversion rate in patients with chronic hemodialysis and also the incidence of liver function derangement in patients with Hepatitis B and C. METHODS: HBV and HCV status of patients who were on hemodialysis irrespective of serological status and etiology of renal failure were observed. 205 patients were followed up for a period of one year and the incidence, prevalence and seroconversion of HBV and HCV was estimated through HbsAg and Anti-HCV ELISA tests. T-test was used to compare different biochemical and other parameters among two groups (Reactive and Non-reactive). Linear regression was used to calculate the relationship between the parameters and seroconversion rates. RESULTS: 205 patients were observed in the study. The prevalence and seroconversion rates were 11.22% and 4.8% in HBV patients and 18.54% and 6.8% in HCV patients respectively, at the end of the study. There was a significant correlation of the prevalence with average number of blood transfusion and elevated ALT levels in HbsAg reactive patients. Additionally, anti-HCV reactive patients correlated significantly with average number of blood transfusion and elevated ALT levels. There was significant correlation with mean duration of haemodialysis and i.v drug abuse in anti-HCV reactive patients. Regarding the seroconversion status only the average number of blood transfusions was having a significant correlation in both HbsAg and anti-HCV reactive patients. CONCLUSION: The prevalence and seroconversion rates were 11.22% and 4.8% in HBV patients and 18.54% and 6.8% in HCV patients respectively. Safety can be improved with the availability of more sensitive tests, increasing use of erythropoietin, timely vaccination for hepatitis B and adopting universal precautions.

significant history of constipation with stool frequency of once every 4-5 days, even with regular use of laxatives. There was no history of fever, chills, burning micturition, and urinary frequency. Past history was significant for type 2 diabetes mellitus of 20 years duration and hypertension of 3 years duration. She had coronary artery disease and was hypothyroid for last 2 years. She suffered from ischemic stroke (left MCA territory) 2 months back and since then she was bedridden. She was catheterized in previous admission, when she was admitted for her neurological illness and subsequently remained catheterized during her hospital stay of 1.5 months. Patient was on insulin, aspirin, beta blocker, ACE inhibitors, statins, and thyroxin. Physical examination revealed diffuse tenderness on palpation of abdomen and suprapubic dullness. Rest of physical examination was unremarkable and did not reveal any abnormality apart from findings suggestive of long standing diabetes, hypertension, hypothyroidism, and CVA. On basis of history and physical examination, she was suspected to be having acute urinary retention probably due to blockage of indwelling Foleys catheter. Urinary catheter was removed immediately and she was recathe terized with about 1 l urine draining in urine bag. After 2 days of hospital stay, color of the urine in urinary bag was noted to be purple. Notably, when the urine was collected in a glass tube it was not purple in color. Complete urine examination and urine for culture and sensitivity was sent. Patient was empirically started with broad spectrum antibiotics (piperacillin and tazobactum) for gram-negative bacterial infection as per hospital antibiotic policy and sensitivity pattern. Baseline renal function test were deranged with blood urea of 185 mg/dL and serum creatinine of 5.84 mg/dL. Total leukocyte count was normal. Ultrasonography KUB carried out before recatheterization showed normal-sized kidneys Purple urine bag syndrome (PUBS) is a unique disease entity characterized by an alarming purple discoloration of the urine secondary to bacterial urinary tract infection with indigo-and indirubin-producing bacteria. This syndrome occurs particularly in alkaline urine due to reaction of infected urine with catheter tubing or urine bag. Here, we report a case of 60-year-old diabetic woman with neurogenic bladder and acute kidney injury who was diagnosed to be having PUBS.