Hereditary rickets in indigenous infants, more than a deficiency etiology

Abstract

Background: Rickets encompasses a heterogeneous group of acquired and hereditary diseases. The most common cause is nutritional deficiency, but it can also have a genetic origin.

Purpose: The purpose of this is article is to report the case of rickets of genetic origin in an indigenous patient

Case presentation: We present the case of an Indigenous patient with rickets, in whom a nutritional etiology was ruled out. Molecular testing confirmed the diagnosis of vitamin D-dependent rickets type 1A (VDDR-1A).

Discussion and conclusion: The diagnosis of rickets requires knowing the possible biochemical profiles as a key tool, and thus opportunely suspecting less frequent variants such as hereditary ones, even in a high-risk population of deficiency origin as was the case in the reported case.