Mutations in the vitamin D receptor (VDR) are associated to the hereditary 1,25-dihydroxivitamin D-resistant rickets. The objectives of this work are: search for mutations in the VDR and analyze their functional consequences in four Brazilian children presented with rickets and alopecia. The coding region of the VDR was amplifi ed by PCR e direct sequenced. We identifi ed three mutations: two patients had the same mutation in exon 7 at aminoacid position 259 (p.Q259E); one patient had a mutation in exon 8 at codon 319 (p.G319V) and another one had a mutation in exon 3 leading to a truncated protein at position 73 (p.R73X). Functional studies of the mutant receptors of fi broblast primary culture, from patients' skin biopsy treated with increasing doses of 1,25(OH) 2 vitamin D showed that VDR mutants were unable to be properly activated and presented a reduction in 24-hydroxylase expression level.
RESUMOo atraso no crescimento é freqüente e grave em crianças com doença renal crônica (drc). vários fatores contribuem para o comprometimento do crescimento nestas crianças, incluindo as alterações no eixo hormônio de crescimento (gH) -insulin-like growth factor 1 (igF-1), desnutrição, acidose, doença renal óssea e uso de corticóides. em crianças com drc, o tratamento do atraso no crescimento é difícil em virtude da presença de doenças associadas que necessitem de adequado tratamento médico. Apesar de as evidên-cias a respeito da segurança e de a eficácia do gH nesta população, este tratamento ainda é pouco utilizado. esta revisão mostra o impacto, as causas e o tratamento do atraso no crescimento em crianças com drc. H istoricamente, o termo insuficiência renal crônica (IRC) tem sido usado para descrever pacientes com ritmo de filtração glomerular (RFG) menor que 75 mL/min/1,73 m 2 de área corporal (1). Mais recentemente, a National Kidney Foundation (NKF) introduziu o termo doença renal crônica (DRC), bem como a classificação do quadro, a fim de propiciar a detecção precoce, retardar a progressão e prevenir complicações relacionadas. Essa classificação descreve cinco estágios da DRC considerando a presença de lesão
The Brazilian collaborative registry for pediatric renal transplantation began in 2004 as a multicenter initiative aimed at analyzing, reporting, and disseminating the results of pediatric renal transplantation in Brazil. Data from all pediatric renal transplants performed from January 2004 to May 2018 at the 13 participating centers were analyzed. A total of 2744 pediatric renal transplants were performed in the thirteen participating centers. The median age at transplantation was 12.2 years, with the majority being male recipients (56%). The main underlying diseases were CAKUT (40.5%) and glomerulopathy (28%). 1981 (72%) of the grafts were from deceased donors (DD). Graft survival at one year (censored by death) was 94% in the live donor group (LD) and 91% in the DD group (log‐rank test P < 0.01). The patient’s survival at one and 5 years was 97% and 95% for the LD group and 96% and 93% for the DD group (log‐rank test P = 0.02). The graft loss rate was 19% (n = 517), more frequently caused by vascular thrombosis (n = 102) and chronic graft nephropathy (n = 90). DD recipients had 1.6 (1.0‐2.2) times greater chance of death and 1.5 (1.2‐1.8) times greater chance of graft loss compared to LD recipients. The mortality rate was 5.4% (n = 148), mainly due to infection (n = 69) and cardiovascular disease (n = 28). The results of this collaborative pediatric renal transplant record are comparable to other international registries, although we still have a high infection rate as a cause of death.
Objective: To describe the case of a child with paracoccidioidomycosis who presented hypercalcemia with multiple osteolytic lesions.Description: A 6-year-old boy was admitted with a one-month history of fever and hepatosplenomegaly. On admission, he looked sick, pale, and had disseminated lymphadenopathy and hepatosplenomegaly. The laboratory findings included anemia (hemoglobin = 6.8 g/dl), eosinophilia (1,222/mm 3 ), thrombocytopenia (102,000/mm 3 ), and hypoalbuminemia (serum albumin = 2.2 g/dl). Paracoccidioides brasiliensis was identified in bone marrow examination. In the second week after admission, the patient presented joint pain, poor activity and difficulty in walking. He presented hypercalcemia (maximum value = 14.9 mg%) and reduction in renal function, which lasted for two weeks. On the 42nd day after admission, his chest X-ray showed lytic lesions in clavicle, scapula, ribs, and humerus, with bilateral slipped capital humeral epiphysis. The patient presented nephrocalcinosis and nephrolithiasis, reduction in creatinine clearance and evidence of tubular lesions. At the end of the second month after admission, Mycobacterium tuberculosis was isolated in gastric lavage. The child received treatment for paracoccidioidomycosis and tuberculosis and has not had any sequelae for 3 years.Comments: The development of symptomatic hypercalcemia leading to renal lesion, associated with multiple osteolytic lesions, had never been described in paracoccidioidomycosis. Although pulmonary tuberculosis was diagnosed and could be related to hypercalcemia, the sudden onset of hypercalcemia and its normalization without specific treatment for tuberculosis suggests that bone lysis was the most important factor in the genesis of hypercalcemia. Descrição: Menino de 6 anos, internado com história de febre e hepatoesplenomegalia há 1 mês. À internação, apresentava-se em regular estado geral, descorado, com linfonodomegalia generalizada e hepatoesplenomegalia. Os exames laboratoriais identificaram anemia (hemoglobina = 6,8 g/dl), eosinofilia (1.222/mm 3 ), plaquetopenia (102.000/mm 3 ) e hipoalbuminemia (albumina = 2,2 g/dl). Paracoccidioides brasiliensis foi identificado no mielograma. A partir da segunda semana de internação, apresentou artralgia, hipoatividade e dificuldade à deambulação, sendo constatada hipercalcemia (dosagem máxima de 14,9 mg%) e redução da função renal, que duraram pouco mais de 2 semanas. No 42° dia de internação, foram vistas, na radiografia de tórax, múltiplas lesões líticas em clavículas, escápulas, costelas e úmeros, com escorregamento epifisário de úmero bilateral. Apresentou nefrocalcinose e nefrolitíase, com redução no clearance de creatinina e evidências de lesão tubular. No final do segundo mês de internação, na cultura do lavado gástrico, foi identificado Mycobacterium tuberculosis. Recebeu tratamento para paracoccidioidomicose e tuberculose e está há mais de 3 anos em acompanhamento, sem nenhuma seqüela.Comentários: O desenvolvimento da hipercalcemia sintomática, levando à lesão rena...
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