Abstract

SILVA, Ana M et al. Distal hereditary renal tubular acidosis, diagnosis in siblings: About 2 pediatric cases. Arch. argent. pediatr. [online]. 2019, vol.117, n.3, pp.e263-e269. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2019.e263.

Distal renal tubular acidosis is the most common type of renal tubular acidosis in pediatrics and can be hereditary. It is due to an inability in the kidney to excrete hydrogen ion (H+), in the absence of deterioration of renal function, and it is accompanied by hyperchloremic metabolic acidosis with normal anion gap. The symptoms can be growth retardation, vomiting, constipation, lack of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and even muscle paralysis due to hypokalemia. It is often accompanied by sensorineural hearing impairment. Correcting acidosis can have a variety of benefits such as restoring normal growth, decreasing hypokalemia, stabilizing or preventing nephrocalcinosis and decreasing the risk of osteopenia. Timely diagnosis and adequate treatment of patients make them remain asymptomatic and able to lead a good quality of life. We present the cases of two siblings affected by distal renal tubular acidosis, its diagnostic process, treatment and current follow-up.

Keywords : Acidosis; Renal tubular-hereditary distal tubular acidosis; Nephrocalcinosis; Growth retardation.

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