[Pseudohypohyperparathyroidism with the phenotype of the tricho-rhino-phalangeal syndrome].
A 14 year old boy with essential signs of the tricho-rhino-phalangeal syndrome type II (Langer-Giedion-Syndrome) showed multiple areas of osteolysis as well as nephrolithiasis of the left kidney. Urine analysis revealed hypercalciuria and a lacking excretion of c-AMP. Following the Ellsworth-Howard-Test (200 U parathyroid hormone i.v.) neither the phosphate excretion increased nor c-AMP could be detected. The present results are in accordance with an isolated insensitivity of the kidney to parathyroid hormone on one hand and a regulatorily caused hyperparathyroid response on the other with ensueing hypercalciuria and nephrolithiasis.
D000293:Adolescent; D002118:Calcium / Q000652:urine; D000242:Cyclic AMP / Q000652:urine; D006801:Humans; D006961:Hyperparathyroidism / Q000175:diagnosis*; D007669:Kidney Calculi / Q000175:diagnosis; D008297:Male; D010641:Phenotype; D011547:Pseudohypoparathyroidism / Q000175:diagnosis*; D013577:Syndrome
D000242:Cyclic AMP; D002118:Calcium
Pseudohypohyperparathyreoidismus mit Phänotyp des Tricho-Rhino-Phalangealen Syndroms.