Zusammenfassung
Die Differenzialdiagnose rachitischer Erkrankungen im Erwachsenenalter kann durch
eine uneindeutige Klinik erschwert werden. An der vorliegenden Kasuistik soll die
Diagnosefindung bei einem jungen, männlichen Patienten mit schmerzhaften Gangstörungen
illustriert werden. Der schließlich diagnostizierte Phosphatdiabetes grenzt sich deutlich
von Rachitiden anderer Genese ab.
Phosphate Diabetes Causing Painful Gait Disorder in a Young Male
Non-typical clinical findings may make it difficult to arrive at a differential diagnosis
of rickets in adults. This case report deals with a young male suffering from painful
disorders of gait and illustrates how difficult it was to arrive at a correct diagnosis.
Phosphate diabetes, which was ultimately diagnosed, is quite different from all other
types of rickets of other origin.
Literatur:
- 1
Drezner M K.
PHEX gene and hypophosphatemia.
Kidney Int.
2000;
57
9-18
- 2
Nesbitt T, Fujiwaral I, Thomas R, Xiao Z S, Quarles L D, Drezner M K.
Coordinated maturational regulation of PHEX and renal phosphate transport inhibitory
activity: evidence for the pathophysiological role of PHEX in X-linked hypophosphatemia.
J Bone Miner Res.
1999;
14
2027-2035
- 3
Econs M J, Friedman N E, Rowe P S, Speer M C, Francis F, Strom T M, Oudet C, Smith J A,
Ninomiya J T, Lee B E, Bergen H.
A PHEX gene mutation is responsible for adult-onset vitamin D resistant hypophosphatemic
osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic
rickets.
J Clin Endocrinol Metab.
1998;
83
3459-3462
- 4
Malloy P J, Eccleshall T R, Gross C, Van Maldergem L, Boillon R, Feldman D.
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D
receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.
J Clin Invest.
1997;
99
297-304
- 5
Oranje A P, Przyrembel H, Meradji M, Loonen M C, de Klerk J B.
Salomons epidermal nevus syndrome and hypophosphatemic vitamin D-resistant rickets.
Arch Dermatol.
1994;
130
1167-1171
Dr. med. S. Drinda
Klinik für Innere Medizin IVRheumatologie/Osteologie
Erlanger Allee 10107740 Jena
eMail: E-mail: stefan.drinda@med.uni-jena.de
