Kidney transplantation in Fabry's disease.

Abstract

The right abducens nerve palsy gradually improved. Six weeks after discharge lateral movement of the right eye was apparently full but the diplopia persisted and he complained of blurring in the left eye. Prednisolone was then given, but a week later vision in the right eye became blurred. The left carotid and the left radial pulses were absent and the right carotid pulse was weak. A short, soft systolic bruit was audible over the right carotid artery. Visual impairment was believed to be due to retinal ischaemia.Three months after discharge the patient still had headache and intermittent blurring of vision. The left auriculotemporal arterial pulsation was absent. Nicotinic acid added to the treatment gave no benefit. Four months after dischage he developed another crop of papulonecrotic eruptions over the back, buttocks, arms, legs, and face. The headache was intense and there was polyarthralgia involving the wrists, ankles, and knees. These symptoms persisted for over a month despite prednisolone in doses of up to 60 mg/day. Prednisolone was stopped and cyclophosphamide by mouth 150 mg/day gradually reducing to 100 mg/day was given instead. The headache became less frequent and less severe.Aortography nine months later showed the state of the extracranial cerebral vessels to be unchanged. CommentThe unilateral abducens palsy in this case might be attributed to a reduced blood supply to the nucleus of the nerve in the pons. The lack of any other evidence of brain-stem lesion, however, was against that explanation. Isolated oculomotor palsy associated with various causes of arteriopathy such as diabetes mellitus and syphilis is well known, but, unlike those disorders, the lesions in Takayasu's (1908) disease are confined to the large arteries.The onset and course of the abducens palsy in our patient were similar to those of a palsy due to infarction of the nerve trunk resulting from occlusion of the vasa nervorum, and the view that this could have been the nature of the lesion in our case is supported by the presence of widespread cutaneous microangiitis, manifested as papulonecrotic, tuberculidelike eruptions. Alternatively, the nerve may have been directly affected by a granulomatous process as in cranial neuritis, or polyneuritis cranialis-a condition that seems to be highly prevalent in some countries in the Far East, including Thailand (Steele and Vasuvat, 1970).

Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.

“…Lockman et al (1973) in a double-blind crossover study, have shown the beneficial use of diphenylhydantoin in this condition. During the past few years several patients with Anderson-Fabry's disease in end-stage renal failure have received renal transplants (Desnick et al, 1972;Philippart, Franklin, and Gordon, 1972;Clarke et al, 1972;Biihler et al, 1973). Apart from the aimed benefit from improved renal function, attempts at renal transplantation were also seriously pursued because of possible general improvement following the production by the transplanted kidney of the deficient a-galactosidase enzyme.…”

Kidney Transplant in Fabry Disease: A Revision of the Literature

“…No information is mentioned about the GLA mutation involved. Histology shows typical endothelial, interstitial and glomerular deposits (multilamellar bodies, sphingolipid inclusions) in 6 to 11 cases ( Table 2 ) [ 21 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 ]. It was not clear whether the occurrence of the ceramide accumulation in the renal graft could add further risk of graft failure.…”

Current Therapeutic Strategies for Patients With Polyneuropathies Secondary to Inherited Metabolic Disorders

“…Kidney transplantation has been effective in treating renal disease but does not reverse the disease manifestations in other organs. 36 Two recent clinical trials have shown efficacy of enzyme replacement with recombinant α-galactosidase A. Schiffmann et al 37 reported improvement of neuropathic pain and stabilization of renal function in 26 affected men treated for 6 months. In a second study, α-galactosidase A therapy decreased renal microvascular endothelial deposits in the kidney, skin, and heart within 20 weeks of treatment but unfortunately was ineffective for neuropathic pain.…”