A clinical case of renal tubular acidosis type 1 in a 1-month old baby

Renal tubular acidosis is a group of tubular diseases of the kidneys, whiсh are characterized by disorders of bicarbonate reabsorption, secretion of hydrogen ions, or a combination of both defects and cause metabolic acidosis with preserved glomerular filtration. Distal renal tubular acidosis is characterized by severe hyperchloraemic metabolic acidosis due to impaired excretion of hydrogen ions in the distal nephron. The prevalence of the primary distal renal acidosis is 1:40 000. Most often the first onset of the disease occurs at the age of 6 months to 2 years. The article presents a rare case of tubular acidosis type 1 in a child at the age of 1 month and 5 days. The presented case demonstrates that renal tubular acidosis can clinically manifest in children during the first months of life leading even at this age to severe metabolic disorders requiring certain raised level of suspicion for this pathology. Rarity of distant tubular acidosis is one of the factors predisposing to difficulty and tardiness of its diagnosis that leads to early disability and high risk of life-threatening conditions.

renal tubular acidosis, nephrocalcinosis, metabolic acidosis