1 - Serviço de Pediatria Médica; Hospital de Torres Novas; Centro Hospitalar do Médio Tejo
2 - Unidade de Nefrologia Pediátrica; Área da Mulher, Criança e Adolescente; Hospital de Dona Estefânia; Centro Hospitalar Universitário de Lisboa Central
- Port J Nephrol Hypert 2020; 34(3): 183-186
Case Report A three-month-old boy was referred to our hospital for the study and management of metabolic acidosis and failure to thrive. At our hospital, laboratory assessment showed non-anion gap metabolic acidosis and hypokalemia. Renal ultrasound revealed nephrocalcinosis. Due to the presumptive diagnosis of dRTA, the patient was started on oral therapy with citrate; improvement in weight progression, dietary tolerance, and analytical evaluation was observed. At 3 years-old, due to a significant language delay, an otorhinolaryngological evaluation was performed, which diagnosed bilateral sensorineural deafness. Next-generation sequencing (NGS) five gene panel for renal tubular acidosis revealed a variant in homozigoty in the exon 21 of the ATP6V0A4, known to be associated with dRTA and late-onset sensorineural hearing loss.
Conclusion: With this case, the authors intend to highlight the importance of the clinical suspicion of this pathology, given that with the correct therapy and early follow-up, it is possible to recover weight and height, and that an early diagnosis of deafness may have a profound impact on the child’s development.
Keywords: Failure to thrive; tubular dysfunction