Serum ferritin levels in children with dengue infection.

The purpose of this study was to evaluate the levels of ferritin, an acute-phase reactant, in predicting the risk of dengue hemorrhagic fever (DHF) in patients with dengue infection. One hundred seventy-seven Thai children (100 males, 77 females) 4-16 years old (median age 11 years) with DF (n = 44) and DHF (n = 133) were enrolled in the study. All patients had serologic confirmation of dengue infection. Each had a venous blood sample drawn daily during hospitalization and at the outpatient clinic 2-4 weeks after discharge from the hospital, to determine serum ferritin levels. The median serum ferritin levels (ng/ml) in children with DHF (Day 2, 974; Day 3, 624; Day 4, 1,136; Day 5, 1,912; Day 6, 2, 105; Day 7, 1,840; Day 8, 1,478 and Day 9, 1,144 of illness) were higher than those with DF (Day 2, 25.4; Day 3, 45.6; Day 4, 655; Day 5, 1,050; Day 6, 1,075; Day 7, 615; Day 8, 764 and Day 9, 600 of illness) with p-values of 0.013, 0.001 and 0.013 on Days 5, 6 and 7 of illness, respectively. A cutoff level of serum ferritin of 1,200 ng/ml was used to calculate sensitivity and specificity for DHF. The results reveal the sensitivities on Days 5, 6 and 7 of illness were 81.5, 84.4 and 89.9%, respectively, and the specificities were 42.4, 39.0 and 36.4%, respectively. High serum ferritin levels > or = 1,200 ng/ml may be a predictor of dengue hemorrhagic fever.

Fisiopatología y tratamiento de la Fiebre Hemorrágica del Dengue / Pathophysiology and management of dengue hemorrhagic fever

La infección por dengue es causada por uno de los cuatro serotipos del virus. Las manifestaciones clínicas varían de infección asintomática a fiebre no diferenciada, fiebre del dengue y fiebre hemorrágica del dengue (FHD). La FHD se caracteriza por la presencia de fiebre elevada constante durante dos a siete días; diátesis hemorrágica, como prueba de torniquete positiva, petequias, epistaxis y hematemesis; trombocitopenia con recuento de plaquetas =< 100 x 10 9/L; y pérdida de plasma debido al aumento de la permeabilidad vascular que se evidencia por hemoconcentración. derrame pleural y ascitis. La diátesis hemorrágica se debe a vasculopatía, trombocitopenia. disfunción plaquetaria y coagulopatía. Las tres etapas de la presentación clínica se denominan febril, tóxica y de convalecencia. La etapa tóxica, que dura entre 24 y 48 horas, es el período más crítico en el que se produce una rápida pérdida de plasma, que ocasiona trastornos circulatorios. La gravedad de la FHD varía de manifestaciones leves (grados I y II, según la Organización Mundial de la Salud OMS), con cambios mínimos y temporarios de los signos vitales, a episodios graves (grados III y IV, según la OMS), con choque inminente (por ejemplo, con presión sanguínea de 100/90 mmHg) o choque profundo. No existe ningún tratamiento específico para la FHD. Los tratamientos complementarios intensivos son el aspecto más importante para el control de la infección. Es fundamental detectar la enfermedad en una primera instancia y controlar atentamente los trastornos circulatorios. El tratamiento óptimo con fluido para mantener la función de los órganos vitales durante el período crítico y el control eficaz de los episodios hemorrágicos permiten obtener resultados favorables. Se recomienda el suministro de factor VII recombinante activado en los casos en que la hemorragia masiva no pueda controlarse mediante la restitución de hemocomponentes.

Clinical and molecular characterization of an extended family with Fabry disease.

OBJECTIVE: To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein. MATERIAL AND METHOD: Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study. In each individual, clinical history, physical examination, leukocyte enzyme activity of alpha-Gal A, and mutation analysis were performed. Those with a mutation were further investigated by ophthalmological and audiological evaluations, electrocardiography, echocardiogram, urinalysis, and blood tests to determine renal insufficiency. Expression study of the mutant protein was performed using a Pichia pastoris expression system. RESULTS: Four affected males and five symptomatic female carriers were identified. Clinical manifestations included severe neuropathic pain, acroparesthesia, hypo-/hyper-hidrosis, frequent syncope, ischemic stroke, cardiac hypertrophy, corneal dystrophy and cart-wheel cataract, high frequency sensorineural hearing loss, periorbital edema and subcutaneous edema over hands and interphalangeal joints. None had angiokeratoma or renal symptoms. The authors identified a novel mutation, p.L106R, in the GLA gene. Recombinant expression of the mutant protein gave little or no enzyme activity compared to the normal protein. CONCLUSION: There were intrafamilial clinical variabilities, but consistent findings of the absence of angiokeratoma and renal symptoms, which could represent a unique feature of this particular mutation.

Cystinuria: cause of recurrent renal stones in a 4-year-old girl.

This paper presents the case report of a 4-year and 6-month old girl with cystinuria. She clinically presented with recurrent radiopaque renal stones since the age of 3 years. She received 2 subsequent operations of pyelolithotomy combined with ureterolithotomy at the age of 3 years 6 months, and pyelolithotomy alone at the age of 5 years. She was initially diagnosed as having cystinuria by the presence of hexagonal plate crystals in her acidified urine and positive for the urinary cyanide-nitroprusside test. The diagnosis was confirmed by urinary amino acid analysis using quantitative ion-exchange chromatography which revealed increased amounts of cystine and dibasic amino acids of lysine and ornithine. In spite of maintaining a high fluid intake and alkalinizing urine by giving potassium citrate after the first operation, recurrent renal stones were found. Therefore, after the second operation, D-penicillamine was additionally introduced. During the 18-month follow-up, although there were recurrent renal stones, the rate of stone formation was slower. To the authors' knowledge, this is the first case report in Thailand.

Henoch-Schonlein purpura: clinical manifestations and long-term outcomes in Thai children.

The clinical features of 47 children with Henoch-Schonlein purpura (HSP) are presented. The most common ages at presentation ranged from 3-5 years. Duration of data collection was 60 months. The peak incidence was from December to February. The organ involvements included skin (100%), gastrointestinal tract (74.5%), renal (46.8%) and joint (42.6%). Renal involvement was detected within the first 2 months in 16 cases (72.7%) but was delayed until 6 months after diagnosis in 6 cases. No risk factors for renal involvement could be identified. The mean duration of follow-up was 2.6 years (range 1-5 years). Six out of 16 (37.5%) patients had residual renal diseases but none were end stage. Recurrent episodes of abdominal pain and skin purpura were found in a few cases during the first year. Overall prognosis of HSP is good and long-term morbidity is predominantly associated with renal involvement. Patients with initially normal urinalysis should have sequential urinary examination at least for 6 months.