Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts' perspectives

ABSTRACT Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management. This review focuses on answering specific questions raised by Brazilian experts based on their experience in diagnosing and managing patients with FD. The questions are as follows: What is the role of globotriaosylsphingosine in diagnosis? How does one proceed with the diagnosis if there is a variant of unknown significance? What are the earliest and most reliable markers of renal, cardiac, and neurological impairment? What is the prevalence of FD in patients with cryptogenic stroke? What is the average delay in diagnosis in patients with FD? Based on these questions, our objective was to highlight epidemiological, diagnostic, and clinical aspects relating to the literature in the FD field.

[Nephrotic syndrome as the first manifestation of juvenile systemic scleroderma.] / Síndrome nefrótica como a primeira manifestação da esclerodermia sistêmica juvenil.

Renal involvement occurs in 1%-12% in juvenile systemic sclerosis (JSSc) patients, mainly with arterial hypertension, proteinuria and scleroderma renal crisis. We report herein a patient who presented nephrotic syndrome (NS) as the first manifestation of JSSc with focal segmental glomerulosclerosis (FSGS). A female patient presented steroid-sensitive NS at the age of 12 years. At 14 years, she had orbital and lower limbs edema, arterial hypertension, sclerodactyly and proximal skin sclerosis. Moderate capillary dilation and mild focal devascularization were observed in nailfold capillaroscopy, compatible with early stage of scleroderma (scleroderma pattern). Percutaneous renal biopsy guided by ultrasound revealed focal segmental glomerulosclerosis and direct immunofluorescence were negative. Therefore, she fullfilled the provisional classification criteria for JSSc. Patient was treated with oral 25-hydroxyvitamin D (800 IU/day), methotrexate (0.5mg/kg/week) and amlodipin (0.15 mg/kg). Prednisone (60 mg/m2/day) was administered for 4 consecutive weeks, followed by alternate-day (40mg/m2) for 2 consecutive months, with tapering for 4 months and then stopping this medication. Currently she is being treated with methotrexate 15 mg/week, without edema and proteinuria. In conclusion, we reported a rare case of NS with FSGS as the first manifestation of scleroderma. Therefore, renal biopsy is mandatory in JSSc patients with sustained proteinuria or NS.

Hematúria na criança: estudo retrospectivo de 128 casos / Hematuria in children: retrospective study of 128 pediatric patients

Objetivo: Avaliar a freqüencia diagnóstica dos vários distúrbios causadores de hematúria na criança em um serviço universitário de Nefrologia Pediátrica. Métodos: Foram anlisados retrospectivamente os prontuários de 128 crianças, 78 do sexo masculino e 50 do sexo feminino, que apresentavam como queixa / achado principal de hematúria macroscópica persistente, no período de 1978 a 1995. A análise foi realizada com especial atençäo a dados de história, exame físico e antecedentes pessoais e familiares. A idade média à 1ª avaliaçäo foi de 8,2 anos (5 meses a 16 anos), o período médio de seguimento de 3,2 anos (1 mês a 15 anos). Foram excluídos casos que abandonaram o seguimento antes da investigaçäo etiológica. Resultados: Hematúria macroscópica ocorreu em 104 pacientes e microscópica persistente em 24 crianças. Entre os diagnósticos etiológicos firmados predominaram os distúrbios metabólicos e a litíase das vias urinárias, isoladas ou em associaçäo (total de 65,5 por cento dos casos). Hipercalciúria foi o distúrbio metabólico predominante (90,1 por cento), isoladamente (73,2 por cento) ou em associaçäo com hiperuricosúria (16,9 por cento). Antecedentes familiares positivos para litíase foram encontrados em 32,1 por cento das casos diagnosticados como portadores de litíase e/ou distúrbios metabólicos urinários...