Reticular dysgenesis
Overview
Reticular dysgenesis (RD) is a rare frm f severe immundeficiency that is usually fatal unless a successful stem cell transplant is perfrmed. RD is characterized by cmbined immundeficiency and neutrpenia
Symptoms
The child is usually chrnically ill and fails tthrive. The patient may be anemic with recurrent infectins. Assciated signs f infectin may arise, including fever, skin abscess, respiratry distress, and diarrhea. Immundeficiency Despite recurrent infectins, nsignificant lymphid and tnsillar tissues can be fund. The spleen may be nrmal in size. Hepatmegaly is reprted.
Causes
Familial studies suggest that RD is an autsmal inherited disrder, althugh the exact nature f the gene defect is nt knwn. The defect affects the develpment f specific hematpietic cell lines, including T lymphcytes and neutrphils. The lack f certain extrinsic grwth factr(s) has been hypthesized as the cause fr the disrder. These putative grwth factrs are nt granulcyte clny-stimulating factr (GCSF) r granulcyte-macrphage clny-stimulating factr (GM-CSF) because these factrs cannt crrect the neutrpenia.
Diagnosis
The diagnsis f RLS relies essentially n a gd medical histry and physical examinatin. Sleep registratin in a labratry (plysmngraphy) is nt necessary fr the diagnsis. Peripheral neurpathy, radiculpathy and leg cramps shuld be cnsidered in the differential diagnsis; in these cnditins, pain is ften mre prnunced than the urge t mve. Akathisia, a side effect f several antipsychtics r antidepressants, is a mre cnstant frm f leg restlessness withut discmfrt. Dppler ultrasund evaluatin f the vascular system is essential in all cases t rule ut venus disrders which is cmmn etilgy f RLS. A rare syndrme f painful legs and mving tes has been described, with n knwn cause.
Treatment
The nly curative therapy is stem cell transplantatin; therefre, the identificatin f an apprpriate dnr fr stem cell transplantatin is f utmst imprtance. Histcmpatible sibling, match-unrelated dnr, haplidentical dnr, r umbilical crd bld stem cells are ptential surces that must be explred. Fr mre infrmatin n stem cell transplantatin, please see Medscape's Stem Cell Research and Therapy Resurce Center.