Vitamin D-Dependent Rickets Type II

    Sharaf Al Shurafi, Lena Abu Aker, Ahmed Alfarra, Abdalkarin Rdwan, Hadeel Abu Rizq
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    TLDR A 3-year-old with vitamin D-resistant rickets and severe hair loss died despite treatment, highlighting the need for improved management of the condition.
    The document details a case study of a 3-year-old with vitamin D-dependent rickets type II (VDDR type II), a condition marked by resistance to vitamin D and severe alopecia. Despite high-dose vitamin D and calcium treatment, the patient's health declined, leading to multiple hospitalizations and respiratory failure. Symptoms included alopecia, fragile bones, and leg bowing, with lab results showing hypocalcemia, elevated serum 1,25-dihydroxyvitamin D, and secondary hyperparathyroidism. Oral calcium therapy led to some radiographic improvement after 3.5 months, but the patient died from a severe chest infection and related complications at age 3. The case underscores the need for better understanding and management of VDDR type II.
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