RESUMO
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient's mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2-6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis.
Assuntos
Raquitismo Hipofosfatêmico Familiar/complicações , Raquitismo Hipofosfatêmico Familiar/genética , Hipercalciúria/complicações , Hipercalciúria/genética , Mutação/genética , Nefrolitíase/complicações , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética , Sequência de Bases , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Dados de Sequência Molecular , Nefrolitíase/genética , Linhagem , Polimorfismo de Nucleotídeo Único/genética , Gravidez , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Mapeamento por Restrição , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
Chronic pain in youth with gender dysphoria (GD) is poorly understood. The aim of our study was to review the clinical presentation of 8 youth with GD in a multidisciplinary chronic pain clinic. A single center retrospective chart review was conducted to obtain information on demographics, clinical care, previous diagnoses, and validated clinical measures. We present the trajectory of pain in this population with treatment of GD. Recognition and treatment of GD in youth with pain may improve pain outcomes.