TY - JOUR T1 - Outcome of primary tubular tubulopathies diagnosed in pediatric age JO - Nefrología (English Edition) T2 - AU - Gómez,Cristina Julia Blázquez AU - Gil-Peña,Helena AU - Álvarez,Flor A Ordóñez AU - Rodríguez,Fernando Santos SN - 20132514 M3 - 10.1016/j.nefroe.2020.07.001 DO - 10.1016/j.nefroe.2020.07.001 UR - https://www.revistanefrologia.com/en-outcome-primary-tubular-tubulopathies-diagnosed-articulo-S2013251421000328 AB - Background and objectivePrimary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history. This study provides the clinical spectrum of a series of primary tubulopathies diagnosed in a Pediatric Nephrology Unit and to offer long-term follow-up data regarding growth, estimated glomerular filtration (eGFR) and intercurrent complications. Patients and methodsObservational study in 53 patients with primary tubulopathies and identified genetic defect: Gitelman syndrome (36%), distal renal tubular acidosis (15%), cystinuria (11%), X-linked hypophosphatemic rickets (7%), Dent-syndrome Lowe (7%), cystinosis (6%), and 1–2 cases of other tubulopathies. Demographic, analytical and clinical data were collected at diagnosis, during evolution and at the time of the study. ResultsThe age (median and interquartile range) at diagnosis was 5.08 years (1.33−8.50). The most frequent presentation manifestations were metabolic decompensations associated with intercurrent processes (40%) and short stature (38%). Height (mean ± SD) was −1.39 ± 1.49 at diagnosis and 1.07 ± 1.54 after a follow-up of 18.92 (6.25−24.33) years. Sixteen (32%) developed an eGFR <90 ml/min/1.73 m2. Three patients required replacement renal replacement. Eleven patients had metabolic decompensations that required hospitalization, 9 renal colic and/or kidney stones and 10 mental problems. Six of 8 patients with distal renal tubular acidosis developed sensorineural deafness. ConclusionsPrimary tubulopathies are a heterogeneous group of diseases that cause growth impairment, largely reversible with treatment, risk of eGFR reduction and significant extrarenal complications derived or associated. ER -