1. When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.
- Author
-
Hoste, Levi, De Baets, Frans, Van Daele, Sabine, Schelstraete, Petra, Boon, Mieke, De Bruyne, Marieke, Dullaers, Melissa, Coppieters, Frauke, and Haerynck, Filomeen
- Subjects
GENETIC disorder diagnosis ,INFLAMMATION ,CELL physiology ,CONSANGUINITY ,DIFFERENTIAL diagnosis ,GENEALOGY ,GENETIC disorders ,GENETIC techniques ,PEDIATRICS ,CILIARY motility disorders ,DIAGNOSIS - Abstract
The article presents a case study of a 16-year-old boy with recurrent episodes of fever, without any respiratory problems but with concomitant abdominal and sometimes thoracic pain and arthralgia. It mentions that genetic evaluation was performed to identify the molecular cause of Primary ciliary dyskinesia (PCD) as well as Familial Mediterranean fever (FMF). It informs that the patient was treated with colchicine.
- Published
- 2018
- Full Text
- View/download PDF