Nasar Hiba, Nasar Imad, Ansari Maryam G, Nasar Ariba, Ansari Ahmad G
Department of Pediatrics, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, IND.
Department of Orthopedics, RAK Medical and Health Sciences University, Ras Al Khaimah, ARE.
Cureus. 2025 Feb 3;17(2):e78454. doi: 10.7759/cureus.78454. eCollection 2025 Feb.
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.
远端肾小管酸中毒(dRTA)是儿童佝偻病的罕见病因之一。在本病例报告中,我们描述了一名13岁男性患者,其表现为身材矮小、双侧膝外翻以及下肢反复无力的病史。影像学观察结果与伴有骨骼畸形的佝偻病相符。详细评估显示血清维生素D水平正常,存在正常阴离子间隙代谢性酸中毒伴低钾血症和高氯血症。后续检查确诊为dRTA(1型)。该患者接受了碱疗法和补钾治疗,并进行了为期五年的监测,在此期间观察到临床表现、影像学和生化参数有逐步改善。本病例报告强调了对儿科患者佝偻病非营养性病因进行系统评估的重要性。早期诊断和治疗对于预防包括生长发育迟缓及骨骼畸形在内的长期并发症至关重要。