Inherited Type-1 renal tubular acidosis with short stature: a rare case report from Nepal

Hereditary dRTA is a rare but treatable condition. Early diagnosis and lifelong alkali therapy can significantly reduce complications, including chronic kidney disease and skeletal deformities. This case reinforces the need for heightened awareness among clinicians to consider dRTA in patients presenting with chronic fatigue, muscle weakness, short stature, and recurrent nephrolithiasis. Furthermore, it underscores the value of genetic evaluation in uncovering the precise etiology, allowing for tailored management and genetic counseling.