Articles: disease.
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Case Reports
Gout inheritance in an extended Chinese family analyzed by whole-exome sequencing: A case-report.
Gout is a worldwide chronic disease generally caused by high serum levels of uric acid. Using whole exome sequencing, we aimed to explore genetic alterations in hereditary gout. ⋯ In the case of this family, the GWAS identified gout and UC-related nucleotide sequence variants may increase the risk of developing gout, but penetrance was not complete. The rare sequence variants in low-density lipoprotein receptor-related protein 1 (LRP1) and oncoprotein induced transcript 3 (OIT3) may have contributed to inheritance of gout within the 5 generations of family members in this study.
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Infection is a major trigger or pathogenic origin in a substantial proportion of glomerulonephritis (GN) patients, typically manifesting infection-related GN (IRGN). Various microorganisms, infection sites, and clinical and histopathological features are involved in IRGN. Once an infectious origin is identified and successfully eradicated, nephrotic syndrome or kidney dysfunction is spontaneously resolved. However, if patients are asymptomatic and the origin is undetermined, the diagnosis and treatment of GN is challenging. This case presentation reported on an IRGN case manifesting steroid-resistant nephrotic syndrome associated with asymptomatic sinusitis as a pathogenic origin. ⋯ This case presentation showed that asymptomatic sinusitis is potentially a pathogenic IRGN origin. A gold standard therapy for idiopathic GN, corticosteroid could be damaging in uncontrolled or underdiagnosed infection. In asymptomatic patients, a thorough screening of infectious diseases, including sinusitis, together with a renal histological evaluation of glomerular nephritis-associated plasmin receptor deposition is also essential in treating a wide spectrum of GN.
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Case Reports
Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation.
Primary hyperoxaluria type 1 (PH1) is a genetic autosomal recessively inherited disorder due to mutation in the alanine-glyoxylate aminotransferase (AGXT) gene. It usually presents in children with nephrolithiasis and/or nephrocalcinosis and progressive renal function impairment and end stage renal disease (ESRD). ⋯ High index of suspicion of PH1 before ESRD should be considered in any patient who has recurrent urolithiasis since early life especially in presence of strong family history.
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Atopic dermatitis (AD), a prevalent chronic skin disease in children, has been associated with psychosocial illness and reduced quality of life because of severe itching and sleep deprivation. Previous studies have found a consistent association between AD and attention deficit hyperactivity disorder (ADHD). However, little is known about this relationship in Chinese children with AD. ⋯ Sleep deprivation caused by AD may be a risk factor for ADHD. AD affects quality of life, especially in patients with ADHD symptoms. AD patients with symptoms of inattention and hyperactivity should be evaluated for ADHD.
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We aimed to investigate the predictive value of microRNA 103 (MIR103) and microRNA 107 (MIR107) for acute respiratory distress syndrome (ARDS) risk, as well as their correlations with overall disease severity and prognosis in sepsis patients. Plasma samples were collected from 196 sepsis patients within 24 hours after enrollment and from 196 healthy individuals (as healthy controls (HCs)) at enrollment. Plasma MIR103 and MIR107 were detected by reverse transcription-quantitative polymerase chain reaction. ⋯ For prognosis, 28-day mortality was increased in ARDS sepsis patients compared to non-ARDS sepsis patients. Finally, MIR103 and MIR107 were reduced in deaths than survivors of sepsis patients, and decreased MIR103 (AUC: 0.704, 95% CI: 0.626-0.782) as well as MIR107 (AUC: 0.649, 95% CI: 0.569-0.729) predicted increased 28-day mortality risk in sepsis patients. MiR-103 and MIR107 were predictive biomarkers for risks of ARDS and 28-day mortality in sepsis patients, which might improve the management of sepsis.