Vitamin D-Dependent Rickets Type II: Extreme End Organ Resistance to 1,25-Dihydroxy Vitamin D3 in a Patient Without Alopecia
October 1986
in “
European journal of pediatrics
”
TLDR A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
In the 1986 study, researchers presented the case of a 3-year-old boy with Vitamin D-dependent rickets type II (VDDR II), who showed no improvement in his condition despite receiving extremely high doses of 1,25-dihydroxy vitamin D3. The boy, who did not have alopecia—a common symptom in VDDR II—died at 39 months of age. In vitro studies indicated a lack of hormone binding and reduced metabolism of the vitamin D metabolite in the boy's skin fibroblasts. The study also reviewed 29 other patients with VDDR II, finding that alopecia was not a consistent indicator of the disease's severity or treatment response. The boy's case was considered to represent an extreme end of organ resistance within the spectrum of VDDR II, and the study suggested that alternative treatments might be necessary for such severe cases.
