علاج الكساح في الكساح الناقص الفوسفات المتنحي الجسدي من النوع الثاني (ARHR2) مع طفرات ENPP1 ثنائية الأليل وغياب التكلس الشرياني أو القلبي

DOI: 10.1007/s00467-022-05505-5

Treatment of patients with ARHR2 is challenging due to its rarity and the fact that ENPP1 deficiency not only causes hypophosphatemic rickets but may also be associated with arterial, cardiac and/or articular calcification or may present as generalized arterial calcification in infancy.

The presence of calcifications precludes treatment with active vitamin D.

In a small series including 6 ARHR2 patients, the reported dosages of phosphate salts (based on elemental phosphate) and calcitriol amounted to 40 mg/kg day and 15 ng/kg per day, respectively.