Familial Mediterranean fever in the pediatric population

Familial Mediterranean fever (FMF) is the most frequent autoinflammatory disorder characterized by short, repeated, and self-limiting crises of fever and serositis. The disease was described as autosomal recessive hereditary transmission secondary to variants of the MEFV (MEditerranean FeVer) gene, even though a variable proportion of patients only present a heterozygous variant. FMF is very common in certain ethnic groups (Turkish, Armenian, Arab, and Jewish), even though it has been described throughout the Mediterranean and elsewhere in the world. The clinical manifestations are variable, with secondary amyloidosis being the most serious complication of the disorder. Treatment and prophylaxis are mainly based on the administration of colchicine, which prevents the crises and avoids complications in most cases. This study reviews the course of seven pediatric patients diagnosed with FMF during the period 2010–2018 at a district hospital. Most of the patients were of Caucasian origin, with onset at an early age in the form of fever as the main symptom, and some patients moreover presented less frequent manifestations (pericardial effusion, sensorineural hearing loss). Two cases presented plasmatic amyloid A protein elevation that subsided with the treatment. All the patients initially received colchicine, and one of them required prescription of anakinra, which was replaced by canakinumab due to a serious adverse reaction. There were no cases of consanguinity, and all the patients were of Mediterranean origin. The subjects showed a favorable course over the years, which was attributed to the early diagnosis and treatment provided(AU)

Familial Mediterranean fever in the pediatric population.

Familial Mediterranean fever (FMF) is the most frequent autoinflammatory disorder characterized by short, repeated, and self-limiting crises of fever and serositis. The disease was described as autosomal recessive hereditary transmission secondary to variants of the MEFV (MEditerranean FeVer) gene, even though a variable proportion of patients only present a heterozygous variant. FMF is very common in certain ethnic groups (Turkish, Armenian, Arab, and Jewish), even though it has been described throughout the Mediterranean and elsewhere in the world. The clinical manifestations are variable, with secondary amyloidosis being the most serious complication of the disorder. Treatment and prophylaxis are mainly based on the administration of colchicine, which prevents the crises and avoids complications in most cases. This study reviews the course of seven pediatric patients diagnosed with FMF during the period 2010-2018 at a district hospital. Most of the patients were of Caucasian origin, with onset at an early age in the form of fever as the main symptom, and some patients moreover presented less frequent manifestations (pericardial effusion, sensorineural hearing loss). Two cases presented plasmatic amyloid A protein elevation that subsided with the treatment. All the patients initially received colchicine, and one of them required prescription of anakinra, which was replaced by canakinumab due to a serious adverse reaction. There were no cases of consanguinity, and all the patients were of Mediterranean origin. The subjects showed a favorable course over the years, which was attributed to the early diagnosis and treatment provided.

Gastroenteritis eosinofílica en una paciente adolescente: un diagnóstico poco común / Eosinophilic gastroenteritis in a teenager: A rare diagnosis

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Recién nacidos de madre con enfermedad autoinmunitaria. Experiencia en un hospital comarcal / Newborns whose mother has autoimmune disease. A community hospitals’ experience

Las madres con enfermedad autoinmunitaria (EAI) pueden presentar exacerbaciones de su enfermedad durante la gestación y el puerperio, con implicaciones fetales y neonatales. El objetivo del presente estudio fue describir las incidencias de estas madres y la afección neonatal asociada. Se realizó un análisis retrospectivo entre los años 2004 a 2010, controlándose 29 madres con EAI. Se registraron 52 embarazos, 39 RN vivos y 13 abortos. Durante la gestación se produjeron 10 complicaciones: una vasculitis digital, una pancreatitis, una glomerulonefritis, una diabetes gestacional, 2 amenazas de parto prematuro, 3 preeclampsias y 1 eclampsia. En el posparto, una exacerbación lúpica. Entre los RN 20,5% presentaron bajo peso y 4 transferencia de anticuerpos maternos con un lupus neonatal (LNN). Posteriormente, 8 niños (20,5%) desarrollaron asma, uno oligoartritis ANA negativa y otro púrpura trombocitopénica autoinmunitaria. En nuestro hospital la tasa de abortos y prematuridad es similar a la descrita en la literatura. Destaca la presencia de un caso de LNN con paso transplacentario de anti-Sm(AU)

Mothers with autoimmune diseases (AID) may have exacerbations of their disease during pregnancy and postpartum period, with fetal implications and neonatal complications. The aim of this study was to describe miscarriages during pregnancy and postpartum problems among mothers with AID and associated neonatal pathology. Retrospective data was recorded from 2004 to 2010. 29 mothers with AID were analyzed, 65% of whom had lupus erythematosus (SLE). There were 52 pregnancies, which resulted in 39 newborns. There were 10 instances of maternal complications (25.6%) during the pregnancies, including 1 with digital vasculitis, 1 with pancreatitis, 1 outbreak of glomerulonephritis, 1 case of gestational diabetes, 2 patients at risk for preterm birth, 3 with preeclampsia and 1 with eclampsia. During the postpartum period, there was one case of SLE exacerbation. Among the newborns 20.5% had low birth weight and 4 exhibited the transplacental passage of maternal antibodies with one case of neonatal lupus. Among complications beyond the neonatal period, 8 (20.5%) children developed asthma, one presented negative ANA oligoarthritis and another presented immune thrombocytopenic purpura. In our hospital, the rates of miscarriage, prematurity and LBW among the newborns of mothers with AID are similar to those reported in the literature. The observation of a case of NL with the transplacental passage of anti-Sm is remarkable(AU)

Newborns whose mother has autoimmune disease. A community hospitals' experience.

Mothers with autoimmune diseases (AID) may have exacerbations of their disease during pregnancy and postpartum period, with fetal implications and neonatal complications. The aim of this study was to describe miscarriages during pregnancy and postpartum problems among mothers with AID and associated neonatal pathology. Retrospective data was recorded from 2004 to 2010. 29 mothers with AID were analyzed, 65% of whom had lupus erythematosus (SLE). There were 52 pregnancies, which resulted in 39 newborns. There were 10 instances of maternal complications (25.6%) during the pregnancies, including 1 with digital vasculitis, 1 with pancreatitis, 1 outbreak of glomerulonephritis, 1 case of gestational diabetes, 2 patients at risk for preterm birth, 3 with preeclampsia and 1 with eclampsia. During the postpartum period, there was one case of SLE exacerbation. Among the newborns 20.5% had low birth weight and 4 exhibited the transplacental passage of maternal antibodies with one case of neonatal lupus. Among complications beyond the neonatal period, 8 (20.5%) children developed asthma, one presented negative ANA oligoarthritis and another presented immune thrombocytopenic purpura. In our hospital, the rates of miscarriage, prematurity and LBW among the newborns of mothers with AID are similar to those reported in the literature. The observation of a case of NL with the transplacental passage of anti-Sm is remarkable.

[Hemoglobinopathy Newcastle: use of chromatography and first case reported in Spain]. / Hemoglobinopatía Newcastle: utilidad de la cromatografía y descripción del primer caso en España.

BACKGROUND AND OBJECTIVE: Unstable hemoglobins (Hb) show amino acid substitutions in critical places that produce a decrease of molecular solubility facilitating its denaturalization and precipitation. We describe the first case of Hb Newcastle in Spain. CASE REPORT: 5 year-old girl who came to visit due to fever over 4 days. Physical examination disclosed pale skin with subicteral mucosaes and splenomegaly. Lab analysis disclosed: Hb, 79 g/l; haematocrit, 0.27 l/l, mean corpuscular volume 93.4 fl, and reticulocyte count of 3%, along with anysocytosis and polychromasia. RESULTS: Hemoglobin heat stability test was positive. Hemoglobin electrophoresis showed a low band at HbA2. High performance liquid chromatography (HPLC) showed an Hb peak corresponding to the 12% of total Hb. Beta globin gene sequentiation showed the CD92 His --> Pro mutation Hb Newcastle in heterocygote condition in patient and her mother. CONCLUSIONS: Hb Newcastle has been described in 3 patients of English, Russian and Chinese origin. Clinical manifestation is chronic hemolytic anemia with severe crisis after oxidant drugs ingestion or infections. By using the electrophoretic method, a diffuse pattern of Hb bands between HbA and HbA2 is observed, difficulting the precise identification of the abnormal Hb. This inconvenience is overcomed by using HPLC that allows the clear identification of the abnormal Hb Newcastle.

Hemoglobinopatía Newcastle: utilidad de la cromatografía y descripción del primer caso en España / Hemoglobinopathy Newcastle: use of chromatography and first case reported in Spain

Fundamento y objetivo: Las hemoglobinopatías inestables presentan sustituciones de aminoácidos en lugares críticos de la molécula que disminuyen su solubilidad y facilitan su desnaturalización y precipitación. Se describe aquí el primer caso de hemoglobina (Hb) Newcastle en España. Caso clínico: Niña de 5 años que consultó por fiebre de 4 días. En la exploración física destacaban palidez cutánea y mucosa, subictericia y esplenomegalia. En la analítica sanguínea destacaban: Hb de 79 g/l, hematocrito del 27%, volumen corpuscular medio de 93,4 fl y reticulocitos del 3%. En el frotis de sangre periférica destacaban anisocitosis y policromasia. Resultados: La prueba de estabilidad térmica fue positiva. La electroforesis mostró una banda difusa entre HbA2 y HbA. La cromatografía líquida de alta resolución (HPLC) mostró una Hb no identificada, que correspondía al 12% del total. El estudio molecular demostró la mutación CD92 His * Pro, Hb Newcastle en estado heterocigoto, patrón que se repitió en la madre. Conclusiones: La Hb Newcastle se ha descrito anteriormente en 3 pacientes de origen inglés, ruso y chino. Su expresividad clínica es de anemia hemolítica crónica con crisis de agudización tras la ingesta de fármacos oxidantes o infecciones. A diferencia de la electroforesis, la HPLC permite el diagnóstico diferencial entre la Hb Newcastle y otras Hb inestables como la Hb Köln

Background and objective: Unstable hemoglobins (Hb) show amino acid substitutions in critical places that produce a decrease of molecular solubility facilitating its denaturalization and precipitation. We describe the first case of Hb Newcastle in Spain. Case report: 5 year-old girl who came to visit due to fever over 4 days. Physical examination disclosed pale skin with subicteral mucosaes and splenomegaly. Lab analysis disclosed: Hb, 79 g/l; haematocrit, 0.27 l/l, mean corpuscular volume 93.4 fl, and reticulocyte count of 3%, along with anysocytosis and polychromasia. Results: Hemoglobin heat stability test was positive. Hemoglobin electrophoresis showed a low band at HbA2. High performance liquid chromatography (HPLC) showed an Hb peak corresponding to the 12% of total Hb. Beta globin gene sequentiation showed the CD92 His * Pro mutation Hb Newcastle in heterocygote condition in patient and her mother. Conclusions: Hb Newcastle has been described in 3 patients of English, Russian and Chinese origin. Clinical manifestation is chronic hemolytic anemia with severe crisis after oxidant drugs ingestion or infections. By using the electrophoretic method, a diffuse pattern of Hb bands between HbA and HbA2 is observed, difficulting the precise identification of the abnormal Hb. This inconvenience is overcomed by using HPLC that allows the clear identification of the abnormal Hb Newcastle

Value of sonography for follow-up of mediastinal lymphadenopathy in children with tuberculosis.

PURPOSE: To assess the clinical value of sonography for the follow-up of mediastinal lymphadenopathy in children diagnosed with pulmonary tuberculosis (TB). METHODS: We conducted a retrospective review of the medical records of 21 children (9 boys, 12 girls) with a mean age of 6 years (range, 7.4 months to 18 years) who had a positive intradermal tuberculin skin test. All patients underwent thorough history-taking, physical examination, frontal and lateral chest radiographs, and sonographic study of the mediastinum. The mediastinum was accessed through the suprasternal and left parasternal approaches. The presence of 1 or more masses with an ovoid or round shape and hypoechoic appearance in the anterior or middle mediastinum was recorded. A comparison was made between the results of the sonographic examination of the mediastinum before administration of anti-TB agents and after 3 months of treatment. RESULTS: Pulmonary radiographic findings were suggestive of TB in 17 patients and were uncertain in 4 patients. Sonographic examination, however, detected mediastinal lymphadenopathy in all patients. A comparison of pretreatment mediastinal sonograms with those obtained after 3 months of anti-TB treatment showed a marked reduction of lymph node involvement in 17 patients (80.9%). In the remaining 4 patients, mediastinal lymphadenopathy was still present. CONCLUSION: Mediastinal sonography appears to be a valuable tool for the diagnosis of TB and in the monitoring of response to treatment in children.