[Use of fondaparinux during hemodialysis in heparin-induced thrombocytopenia. About a new observation]. / Intérêt du fondaparinux (Arixtra(®)) en hémodialyse dans les thrombopénies induites par l'héparine de type II (TIH II). À propos d'une nouvelle observation.

Several alternative anticoagulation drugs are now available for patients with heparin induced thrombocytopenia type II (HIT II). However, their indication is not yet reaching a consensus. Moreover, some of them have not yet their marketing approval. The importantly use in hemodialyzed patients should be taken with caution since most of them are excreted by the kidneys. The use of fondaparinux, which exerts high anti-Xa activity, is not well documented. We report here our experience on the use of fondaparinux in an hemodialyzed patient with HIT II, not only as anticoagulation during hemodialysis sessions but also as interdialytic anticoagulation locking solution of her central venous catheter. The use of fondaparinux seems to us simple enough (even if its ready-for-use syringe requires adjustments to deliver the required doses) and its efficacy, safety and economic cost lead us to think that it is an indication of choice for an alternative anticoagulation in hemodialyzed patients with HIT II. Control prospective trials should be performed in order to confirm the preliminary favourable data and to support the proposal of marketing approval in this indication.

Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation.

Interstitial 2q36 deletion is a rare event. We report on a patient with a de novo del(2)(q36.2q36.3) interstitial deletion of the long arm of chromosome 2 diagnosed by classical banding. The phenotype comprised facial dysmorphism, enlarged kidneys with multiple renal cysts, abnormal minora labia, asymmetric lower limbs with dysplastic patella, and severe mental retardation. By physical mapping, using array-comparative genomic hybridisation (CGH) confirmed by Fluorescent In Situ Hybridisation (FISH), the breakpoints of the deletion were mapped and the size of the deletions was measured: 5.61+/-0.19Mb. A skin biopsy was analysed using electronic microscopy showing an alteration of the structure and organisation of the dermal and peri-neuronal basement membrane. The relation between the phenotype and the deletion of both COL4A4 and COL4A3 genes, located in 2q36.3 loci, as well as the disruption of TRIP12 were discussed.