Twenty-three adult patients (19 females, 4 males) with x-linked hypoph
osphatemic rickets (HPR) underwent a retrospective evaluation of the c
linical course and a clinical examination by a nephrologist, orthopedi
c surgeon and dentist. Blood and urine analysis, bone density measurem
ents with QCT and DEXA, ultrasonic examination of the kidneys were per
formed and the patients were asked to fill in a standardized questionn
aire on pain and psychosocial rehabilitation. Mean final height was 15
2.4 cm +/- 8.5 SD in females and 157.3 cm +/- 8.9 SD in males. Decreas
ed joint mobility was seen in all patients, deviations of the normal l
eg axis in 18/23 patients in spite of 69 correcting osteotomies in the
past. Dental (n = 14) and psychosocial problems were associated with
inability to work (n = 8). There was a trend that patients with a very
low T-p/GFR had a more severe course of the disease. Early therapy wi
th vitamin D metabolites and phosphate had a beneficial effect on grow
th, bone density and deformations. Eight patients had nephrocalcinosis
due to vitamin D and phosphate therapy and had normal kidney function
. Four patients had urinary tract abnormalities. We conclude that pati
ents with HPR should receive continuous interdisciplinary care given b
y nephrologists, orthopedic surgeons, physiotherapists and dentists no
t only during childhood but also as adults.