Abstract: A patient in pediatric who presented with hyperchloremic metabolic acidosis, after ruling out gastrointestinal origin should look for renal tubular acidosis (RTA). This usually inherited protein defect of tubules that are needed in acid-base regulation. "According to pathophysiology, there are four types. Distal type 1 RTA, proximal type 2 RTA, mixed-type 3 RTA, and type 4 RTA based on family history. The pattern of genetic inheritance follows autosomal recessive and autosomal dominant. In western countries, the autosomal dominant form is the most common, while autosomal recessive is mostly in the eastern especially Arab nation due to consanguineous marriage. However, in the literature, there were some cases reported as a secondary form in children that mostly associated with autoimmune diseases but not exclusively as in glucose-galactose malabsorption. A defect of reabsorption, secretion or generations of some ions, are the main mechanism of RTA. The patient may present with various types of symptoms like recurrent stone formation, muscles weakness, failure to thrive, and dehydration and most prominent is hypokalemia, but hyperkalemia may present too as in type 4. There are some extrarenal symptoms associated with RTA like, early or late deafness, hemolytic anemia, ocular problems (cataract glaucoma), neurological (mental retardation), osteopetrosis and many others. The diagnostic approaches of RTA patient are the clinical manifestation in which the suspected patients undergo laboratory investigation and genetic analysis too. RTA treatments are depending on nature of the disease is it primary or secondary form. Primary manage with drugs usually according to the type and may need other intervention to manage the consequences. The secondary form is managed by treating the underlying disease.
Keywords: gastrointestinal origin, renal tubular acidosis (RTA).
Title: Renal Tubular Acidosis in Childhood
Author: Maitham Nasser M. Alrasasi, Tamás Szabó, György Balla
International Journal of Thesis Projects and Dissertations (IJTPD)
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