Jessica M Forero-Delgadillo1, Helena Gil-Peña2, Marta Alonso-Varela3,4, Fernando Santos5,6. 1. Valle de Lili Foundation, Faculty of Health Sciences, Icesi University, Cali, Colombia. 2. Hospital Universitario Central de Asturias, Avd. Roma SN, 33011, Oviedo, Spain. 3. Hospital Universitario de Cruces, Baracaldo, Bilbao, Spain. 4. University of Oviedo, Oviedo, Spain. 5. Hospital Universitario Central de Asturias, Avd. Roma SN, 33011, Oviedo, Spain. fsantos@uniovi.es. 6. University of Oviedo, Oviedo, Spain. fsantos@uniovi.es.
Abstract
BACKGROUND: Recent reports indicate that chronic reduction of glomerular filtration rate (GFR) is common in patients with distal renal tubular acidosis (DRTA). Factors responsible for decreased GFR need clarification. METHODS: We reviewed records of 25 patients with genetically confirmed DRTA included in the RenalTube database. Patients < 18 years at diagnosis and having at least one annual follow-up were selected and classified in two groups according to GFR ≥ 90 (normal GFR) or < 90 mL/min/1.73 m2 (low GFR) after median follow-up of 8.8 years. RESULTS: Eighteen and seven patients had normal and low GFR (X ± SEM, 121.16 ± 28.87 and 71.80 ± 10.60 mL/min/1.73 m2, respectively, p < 0.01). At diagnosis, these 2 subgroups did not differ in sex, age, underlying mutated gene, GFR, height SDS, or percentage of ultrasound nephrocalcinosis. Serum creatinine (SCr) was different but likely due to median ages of presentation being 0.6 and 4.0 in normal and low GFR patients, respectively. On the last recorded visit, no differences between both groups were found in serum bicarbonate, serum potassium, or alkali dosage. Height SDS of patients with normal GFR was - 0.15 ± 0.47 whereas it was - 1.06 ± 0.60 in the low GFR group (p = 0.27). Interestingly, 23% of the whole group had low birth weight (LBW; < 2500 g), equating to 20% and 29% in the normal and low GFR patients, respectively (p = 0.65). CONCLUSIONS: Our findings confirm the risk of kidney function reduction in patients with DRTA of pediatric age onset, suggesting that low GFR is related with less favorable growth outcome and discloses the high frequency of LBW in primary DRTA, a hitherto unrecognized feature.
BACKGROUND: Recent reports indicate that chronic reduction of glomerular filtration rate (GFR) is common in patients with distal renal tubular acidosis (DRTA). Factors responsible for decreased GFR need clarification. METHODS: We reviewed records of 25 patients with genetically confirmed DRTA included in the RenalTube database. Patients < 18 years at diagnosis and having at least one annual follow-up were selected and classified in two groups according to GFR ≥ 90 (normal GFR) or < 90 mL/min/1.73 m2 (low GFR) after median follow-up of 8.8 years. RESULTS: Eighteen and seven patients had normal and low GFR (X ± SEM, 121.16 ± 28.87 and 71.80 ± 10.60 mL/min/1.73 m2, respectively, p < 0.01). At diagnosis, these 2 subgroups did not differ in sex, age, underlying mutated gene, GFR, height SDS, or percentage of ultrasound nephrocalcinosis. Serum creatinine (SCr) was different but likely due to median ages of presentation being 0.6 and 4.0 in normal and low GFR patients, respectively. On the last recorded visit, no differences between both groups were found in serum bicarbonate, serum potassium, or alkali dosage. Height SDS of patients with normal GFR was - 0.15 ± 0.47 whereas it was - 1.06 ± 0.60 in the low GFR group (p = 0.27). Interestingly, 23% of the whole group had low birth weight (LBW; < 2500 g), equating to 20% and 29% in the normal and low GFR patients, respectively (p = 0.65). CONCLUSIONS: Our findings confirm the risk of kidney function reduction in patients with DRTA of pediatric age onset, suggesting that low GFR is related with less favorable growth outcome and discloses the high frequency of LBW in primary DRTA, a hitherto unrecognized feature.
Authors: Sergio Camilo Lopez-Garcia; Francesco Emma; Stephen B Walsh; Marc Fila; Nakysa Hooman; Marcin Zaniew; Aurélia Bertholet-Thomas; Giacomo Colussi; Kathrin Burgmaier; Elena Levtchenko; Jyoti Sharma; Jyoti Singhal; Neveen A Soliman; Gema Ariceta; Biswanath Basu; Luisa Murer; Velibor Tasic; Alexey Tsygin; Stéphane Decramer; Helena Gil-Peña; Linda Koster-Kamphuis; Claudio La Scola; Jutta Gellermann; Martin Konrad; Marc Lilien; Telma Francisco; Despoina Tramma; Peter Trnka; Selçuk Yüksel; Maria Rosa Caruso; Milan Chromek; Zelal Ekinci; Giovanni Gambaro; Jameela A Kari; Jens König; Francesca Taroni; Julia Thumfart; Francesco Trepiccione; Louise Winding; Elke Wühl; Ayşe Ağbaş; Anna Belkevich; Rosa Vargas-Poussou; Anne Blanchard; Giovanni Conti; Olivia Boyer; Ismail Dursun; Ayşe Seda Pınarbaşı; Engin Melek; Marius Miglinas; Robert Novo; Andrew Mallett; Danko Milosevic; Maria Szczepanska; Sarah Wente; Hae Il Cheong; Rajiv Sinha; Zoran Gucev; Stephanie Dufek; Daniela Iancu; Robert Kleta; Franz Schaefer; Detlef Bockenhauer Journal: Nephrol Dial Transplant Date: 2019-06-01 Impact factor: 5.992