[Practical importance of recognizing tubular syndromes in childhood]

Abstract

Tubular syndromes are defined as congenital defects of renal tubular transport. Despite their rare occurrence, early recognition and differentiation is of great importance. Early symptomatic and/or specific treatment may, in many instances, prevent late damage. Since most transport defects are caused by inborn errors of metabolism, correct and early genetic counselling is necessary. According to the chronicity of the disease, psychosocial support from the family must begin as early as possible. Clinically, the symptomatology of most tubulopathies is unspecific, and any suspicion should be confirmed by specific studies of tubular function. Such studies can be performed either in the physician's office or on an ambulatory basis in a specialized clinic. Cooperation between the "suspicious" treating physician and the specialized clinician is of utmost importance. The diagnosis is confirmed by the specialized clinician, who then recommends therapeutic, social and preventive measures. Early recognition and appropriate management improve the chances of alleviating the problems necessarily encountered in families with a case of tubulopathy.