Baseline Demographics and Severity and Burden of Atopic Dermatitis in Adult Patients Initiating Dupilumab Treatment in a Real-World Registry (PROSE).

INTRODUCTION: Dupilumab was initially approved in 2017 as the first biologic therapy for atopic dermatitis (AD). We characterized adults with AD initiating dupilumab in a real-world setting in the USA/Canada. METHODS: PROSE is an ongoing, longitudinal, prospective, observational, multicenter registry of patients with AD initiating dupilumab per country-specific prescribing information. We report baseline data (day of first dupilumab injection) for patients enrolled from April 2018 through July 2019. RESULTS: Among 315 patients (mean age 42.5 years, 55.2% female), the median AD duration was 17.0 years; 65.4% reported a history of type 2 inflammatory comorbidities (e.g., allergic rhinitis, asthma), and 93.3% reported treatment(s) for AD in the previous year, including topical corticosteroids (90.8%), systemic corticosteroids (36.2%), and nonsteroidal systemic therapies (14.0%). In total, 89.2% had an Overall Disease Severity score of 3 (moderate) or 4 (severe). Other mean disease severity scores included the following: Eczema Area and Severity Index 16.9 (range 0-72), body surface area affected 26.8%, Patient-Oriented Eczema Measure 18.5 (range 0-28), Dermatology Life Quality Index 12.7 (range 0-30), and pruritus Numerical Rating Scale score 6.9 (range 0-10). CONCLUSION: Patients initiating dupilumab have longstanding moderate-to-severe AD with significant disease burden and frequent type 2 comorbidities. GOV IDENTIFIER: NCT03428646.

Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy.

Classic Bartter syndrome is a rare condition caused by mutations in the CLCNKB gene and characterised by metabolic alkalosis, hypokalaemia, hyper-reninaemia and hyperaldosteronism. Early signs and symptoms usually occur before a child's sixth birthday and include polyuria and developmental delay. We treated a 13-year-old Vietnamese boy with this syndrome presenting with atypical presentations including syncope and hypertension, but normal growth and development. All common causes of hypertension were ruled out. Genetic testing found two novel mutations in the CLCNKB gene, that is, Ser12Ala (exon 2) and Glu192Ter (exon 6). His estimated glomerular filtration rate was 61 mL/min/1.73 m2 and a kidney biopsy showed focal segmental glomerulosclerosis. He was well managed with long-term enalapril therapy instead of non-steroidalanti-inflammatory drugs which are recommended in managing the increased prostaglandin E2 production in Bartter syndrome. Paediatricians should be alerted with the variability in its presentation. To preserve the kidney function, treatment must include preventing factors damaging the kidneys.