Primary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. The first case was diagnosed in a 3-year-old child presenting with hematuria and urolithiasis.
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Primary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. The first case was diagnosed in a 3-year-old child presenting with hematuria and urolithiasis. Later, his sister, sons and two nephews were studied.
Although asymptomatic, they all had nephrocalcinosis and hyperchloremic metabolic acidosis with normal anionic gap, except one case with normal arterial blood gas test but with nephrocalcinosis and inability of urinary acidification. At follow-up, they all maintained nephrocalcinosis, the index case had acute renal damage and developed hypertension, but none developed chronic renal disease. The diagnosis of autosomal dominant distal renal tubular acidosis is generally made later and patients tend to present with milder disease.
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Full-text links Cite Favorites. Abstract in English , Portuguese. Similar articles [Accidentally diagnosed distal renal tubular acidosis with nephrocalcinosis - a case report]. Turczyn A, et al. Pol Merkur Lekarski. PMID: Polish. Rev Invest Clin. PMID: Silva AM, et al. Arch Argent Pediatr. PMID: Spanish.
Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis. Mohebbi N, Wagner CA. Mohebbi N, et al. J Nephrol. Epub Oct 9. PMID: Review. Renal Tubular Acidosis. Alexander RT, Bitzan M. Alexander RT, et al. Pediatr Clin North Am. Show more similar articles See all similar articles. Publication types Case Reports Actions. Child Actions. Child, Preschool Actions. Female Actions. Humans Actions. Male Actions. Pedigree Actions.
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2012, Número 6
Fluid, electrolyte, and acid-base disorders in children. Philadelphia: Elsevier Saunders; Foreman JW. Renal tubular acidosis. Clinical Pediatrics Nephrology.
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[Distal Hereditary Renal Tubular Acidosis, Diagnosis in Siblings: About 2 Pediatric Cases]
Distal renal tubular acidosis is the most common type of renal tubular acidosis in pediatrics and can be hereditary. 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.