Cureus · 2025
Rickets Secondary to Distal Renal Tubular Acidosis: A Rare Etiology With a Five-Year Follow-Up of Clinical and Radiological Outcomes and Literature Review.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Nasar Hiba, Nasar Imad, Ansari Maryam G, Nasar Ariba, Ansari Ahmad G
Аннотация
Distal renal tubular acidosis (dRTA) is one of the rare causes of rickets in children. In this case report, we describe a 13-year-old male patient who presented with short stature, bilateral genu valgum, and a history of recurrent weakness in the lower limbs. Radiological observations were consistent with rickets with bony deformities. Detailed evaluation revealed normal serum vitamin D levels and normal anion gap metabolic acidosis with hypokalemia and hyperchloremia. Subsequent investigations led to the diagnosis of dRTA (type 1). The patient was treated with alkali therapy and potassium supplementation and was monitored over a five-year period, during which progressive improvement in clinical manifestations and radiological and biochemical parameters were observed. This case report underscores the importance of systematic assessment of nonnutritional causes of rickets in pediatric patients. Early diagnosis and treatment are crucial to prevent long-term complications, including growth failure and bone deformities.