Uso a longo prazo de enalapril e hidroclorotiazida em dois pacientes com novas mutações com doença de Dent tipo 1

Abstract

Dent's disease type 1 is an X-linked tubular disease caused by mutations in the renal chloride channel CLCN-5, and it is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and renal failure. Several cases have been described in which the only presenting symptoms were asymptomatic proteinuria, and focal segmental or global glomerulosclerosis. The renal failure in these patients may be caused by hypercalciuria and persistent proteinuria. Therefore, angiotensin converse enzyme inhibitor and thiazides could be useful. Our aim is to report the effects of these drugs in two novel mutations patients with Dent's disease type 1. In this report, no significant correlations between dosage of hydrochlorothiazide and calciuria and no significant correlations between proteinuria and dosage of enalapril were detected. This is important since these are polyuric patients and these drugs could be dangerous to their renal function. Keywords:Enalapril. Proteinuria. Hypercalciuria.Hydrochlorothiazide. Dent Disease. resumoA doença de Dent é uma tubulopatia ligada ao X causada por mutações no gene que codifica o canal de cloro CLCN-5 e é caracterizada por proteinúria de baixo peso molecular, hipercalciúria, nefrocalcinose e insuficiência renal. Vários casos têm sido descritos, nos quais o único sintoma na apresentação foi proteinúria assintomática e glomerulosclerose global ou segmentar. A insuficiência renal nesses pacientes pode ser causada pela hipercalciúria e proteinúria persistente. Portanto, o inibidor da enzima de conversão da angiotensina e os tiazídicos poderiam ser úteis. O objetivo desta pesquisa é relatar os efeitos destas drogas em dois pacientes com doença de Dent tipo 1 com mutações novas. Neste relato não foram observadas correlações significativas entre dose de hidroclorotiazida e calciúria e entre enalapril e proteinúria. Este achado é importante, pois, sendo pacientes poliúricos, o uso destas drogas poderia prejudicar a função renal Palavras-chave: Enalapril. Proteinúria. Hipercalciúria. Hidroclorotiazida. Doença de Dent.

Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report

“…A high potassium citrate diet has been shown to reduce urinary calcium and delay renal failure in animal experiments (16). There is no clear evidence that ACEI drugs reduce urinary protein in patients with Dent disease (17).…”

Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease

“…A similar promising reduction in urine total protein was observed in two boys with less than 1 year of treatment, and the histologic findings were FSGS and extensive mesangial deposition of C1q (Copelovitch, Nash, & Kaplan, 2007; Lim, Yun, Moon, & Cheong, 2007). However, it has also been reported that the level of urine total protein in some patients failed to respond to ACE inhibitor and/or ARB therapy after a maximum of 5 years (Blanchard et al., 2016; Cramer et al., 2014; Frishberg et al., 2009; Vaisbich et al., 2012); unfortunately, data on the efficacy of these drugs on albuminuria were not available. Our results showed that, in half of the children, albuminuria could be controlled with ACE inhibitor and/or ARB treatment.…”

Ritka tubulopathia: Dent-betegség a focalis segmentalis glomerularis sclerosis hátterében

“…A keresés eredményeként összesen 63 közleményt találtunk, melyekből 59-et tudtunk áttekinteni. A közlemények közül azt a 19 tanulmányt elemeztük, amelyben a genetikai diagnózis mellett a betegek vese biopsziás vizsgálatának a lelete is közlésre került [3,6,[13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29]. A hisztopatológiai leírások vizsgálatán túl a klasszikus Dent-betegséghez tartozó klinikai eltéréseket is elemeztük.…”