Outcome of primary tubular tubulopathies diagnosed in pediatric age.

Autor:	Blázquez Gómez CJ; Hospital Universitario Central de Asturias, Oviedo, Asturias, España., Gil-Peña H; Hospital Universitario Central de Asturias, Oviedo, Asturias, España., Ordóñez Álvarez FA; Hospital Universitario Central de Asturias, Oviedo, Asturias, España., Santos Rodríguez F; Hospital Universitario Central de Asturias, Oviedo, Asturias, España; Universidad de Oviedo, Oviedo, Asturias, España. Electronic address: fsantos@uniovi.es.
Jazyk:	English; Spanish; Castilian
Zdroj:	Nefrologia [Nefrologia (Engl Ed)] 2021 Mar-Apr; Vol. 41 (2), pp. 182-190. Date of Electronic Publication: 2020 Dec 22.
DOI:	10.1016/j.nefro.2020.07.015
Abstrakt:	Background and Objective: Primary 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 and intercurrent complications. Patients and Methods: Observational 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. Results: The 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 estimated glomerular filtration<90ml / min / 1.73m 2 . 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. Conclusions: Primary tubulopathies are a heterogeneous group of diseases that cause growth impairment, largely reversible with treatment, risk of estimated glomerular filtration reduction and significant extrarenal complications derived or associated. (Copyright © 2020 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.)
Databáze:	MEDLINE
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