Ferritin is an acute-phase reactant that is elevated in the course of infectious, inflammatory, autoimmune, and oncological diseases and the hemophagocytic syndrome. In asymptomatic patients, isolated hyperferritinemia may be due to different causes depending on whether or not it is accompanied by iron overload. Hyperferritinemia values above 300 ng/ml and an excess of body iron levels may be indicative of hemochromatosis. However, if such values develop in the absence of iron overload, they may be secondary to hemochromatosis type 4a (ferroportin disease) or more often to hereditary hyperferritinemia-cataract syndrome (HHCS; Aguilar-Martinez et al., Am J Gastroenterol 100:1185-1194, 2005; Ferrante et al., Eur J Gastroenterol Hepatol 17:1247-1253, 2005). HHCS results from different mutations in the L-ferritin gene (FTL) on chromosome 19 (19q13.1), causing autosomal dominant transmission (Bertola et al., Curr Drug Targets Immune Endocr Metabol Disord 4:93-105, 2004). We present a child with HHCS due to the allelic variant c.-167C>T (C33T) in the iron-responsive element region of the FTL gene. When pediatricians encounter an asymptomatic patient with isolated hyperferritinemia in the absence of iron overload, they should consider the possibility of HHCS, especially if other members of the family have developed cataracts from a young age.
We evaluated the evolution over time of once-daily antiretroviral therapy in HIV-infected children and its relationship with adherence. An increase on the prevalence of once-daily antiretroviral therapy was observed over time (from 0.9% in 2002 to 44.2% in 2011). There was no difference in adherence regarding once-daily or BID regimens in 2011. Adherence was related to age and pill burden.
BACKGROUND: Tuberculosis (TB) is the leading opportunistic infection in children with human immunodeficiency virus (HIV), but is uncommon in low prevalence regions. We aim to describe the changing epidemiology and clinical presentation of TB-HIV co-infection in a cohort of HIV-infected
children in Spain.METHODS: Children diagnosed with TB between 1995 and 2016 in the paediatric HIV cohort were identified. The incidence and clinical presentation were compared in three periods: 1995–1999 (P1, before initiation of combined antiretroviral therapy, cART), 2000–2009
(P2, increase in immigration), and 2010–2016 (P3, decrease in immigration).RESULTS: We included 29 TB cases among 1183 children aged <18 years (2.4%, 243/100 000 person-years). The proportion was stable in P1 and P2 (1.3%), but decreased in P3 (0.8%). The median
age at TB diagnosis was 6.4 years (IQR 4–10.6); most children in P3 were aged >10 years (20% vs. 23.1% vs. 83.3%, P = 0.01). TB was diagnosed at HIV presentation in 11/29 children (37.9%). Foreign-born children accounted for respectively 0%, 8% and 67% of the total number of
children in each period (P ≤ 0.0001). One third had extrapulmonary TB; four children died (13.8%).CONCLUSION: In our cohort, the incidence of TB-HIV co-infection decreased with decline in immigration. In regions with adequate cART coverage and low TB transmission, paediatric
TB-HIV coinfection is uncommon, but associated with significant morbidity. Strategies for TB surveillance, diagnosis and treatment in this vulnerable population should be reinforced.
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