Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports.

Pompen, A. W. M.; Ruiter, M.; Wyers, H.

doi:10.1111/j.0954-6820.1947.tb06596.x

Cited by 102 publications

(13 citation statements)

References 5 publications

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“…An identical mechanism has been proposed as the underlying cause of idiopathic fibrocongestive splenomegaly, in patients who had evidence of splenic platelet sequestration prior to splenectomy [51]. The increased RBC pooling in the spleen could also explain the iron overload described in AFD patients, in the absence of Kupffer cell involvement [44]. In our cohort, anaemia was prevalent only among patients with CRI.…”

Section: Discussionsupporting

confidence: 72%

“…Although hypersplenism can result in splenic iron deposition, this rarely appears heavy and tends to be restricted to the sinusoidal lining cells [43]. Notably, massive siderosis was found in the spleens of the first two patients with AFD who underwent post-mortem pathological studies [44]. As the iron overload was not observed in any other site, including in the Kupffer cells of the liver, its pathogenesis was unclear.…”

Section: Discussionmentioning

confidence: 99%

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Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson–Fabry disease

et al. 2008

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A 39-year-old male with classical Anderson-Fabry disease (AFD) and long-standing idiopathic splenomegaly, who had been on haemodialysis since the age of 24, was splenectomised for symptomatic pancytopaenia. Spleen enlargement was first noted at clinical presentation, at age 16, but despite thorough investigation its cause remained unclear. Anaemia, leukopaenia and thrombocytopaenia were first observed a few years thereafter, but well before the start of dialytic treatment. On gross pathological examination the spleen weighed 700 g and had a fibrocongestive appearance. Histologically, it showed expansion of the red pulp and decreased white pulp. Some histiocytes and many of the endothelial cells lining the sinusoids had vacuolated cytoplasm with argyrophilic material within, suggesting their involvement in the storage pathology of AFD. In a retrospective review of our cohort of patients with classical AFD (n = 10), complete blood counts showing anaemia, leukopaenia or thrombocytopaenia were found in five, two and four patients, respectively, including a 6-year-old boy, whose spleen was also enlarged. Data from AFD international registries show that peripheral blood cytopaenias, particularly anaemia, are prevalent among these patients. Sinusoidal endothelial involvement resulting in compromise of splenic blood flow may be the cause of congestive splenomegaly and hypersplenism in classical AFD.

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Section: Discussionsupporting

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson–Fabry disease

et al. 2008

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“…Furthermore, it is the first study showing age-dependent progressive accumulation of GL-3 deposits in podocytes in a cohort of young Fabry patients with normal GFR with absent or low grade proteinuria. While angiokeratoma corporis diffusum was first described by Fabry in 1898 [16], Fabry renal pathology was only recognized about half a century later by Pompen et al when reporting autopsies of three brothers [17]. More detailed descriptions, including biopsies from children with Fabry disease were published later by Desbois and Gubler et al [15, 18].…”

Section: Discussionmentioning

confidence: 99%

Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease

Najafian

Svarstad

Bostad

et al. 2011

Kidney International

159

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Progressive renal failure often complicates Fabry’s disease. However, the pathogenesis of Fabry nephropathy is not well understood. We applied unbiased stereological methods to the study of the electron microscopic changes of Fabry nephropathy and the relationship between glomerular structural parameters and renal function in young Fabry patients. Renal biopsies from 14 (M/F=8/6) enzyme replacement therapy (ERT)-naive Fabry patients (median age 12 years; range 4–19 years) and 9 (M/F=6/3) normal living kidney donor control subjects were studied. Podocyte GL-3 inclusion volume density [Vv(Inc/PC)] increased progressively with age, while there was no significant relationship between age and endothelial [Vv(Inc/Endo)] or mesangial [Vv(Inc/Mes)] inclusion volume densities. Foot process width which was greater in male Fabry patients vs. controls also progressively increased with age, and correlated directly with proteinuria. Endothelial fenestration was reduced in Fabry patients vs. controls. These studies are the first to show relationships between quantitative glomerular structural parameters of Fabry nephropathy and urinary protein excretion. The parallel progression with increasing age in podocyte GL-3 accumulation, foot process widening and proteinuria, strongly suggest that podocyte injury may play a pivotal role in the development and progression of Fabry nephropathy.

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“…Most of the current concepts and pathologic description of the Fabry nephropathy have been derived from autopsy and biopsy studies of affected males [19][20][21][22][23][24], but it has been recognised since long that affected females develop the same type of kidney lesions described in males [20,25]. However, data on kidney pathology in heterozygous females are scarce and the largest published series describing kidney biopsy findings in affected females included only three [10] or five patients [13].…”

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confidence: 99%

Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy

et al. 2008

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Fabry disease is an X-linked glycosphingolipidosis caused by deficiency of alpha-galactosidase. Progressive chronic kidney disease (CKD) is a major cause of morbidity and mortality in males. Although 40% of heterozygous females may develop renal involvement, pathologic data on Fabry nephropathy in heterozygotes are scarce. We reviewed the kidney biopsies of four affected females who had normal to slightly sub-normal renal function, two of them with overt proteinuria. Chronic non-specific degenerative lesions and glycosphingolipid accumulation per cell type were semi-quantitatively assessed by light and electron microscopy. Cellular distribution of glycosphingolipid deposits was best assessed on semithin sections. Podocyte effacement was seen only in proteinuric patients. Combined analysis of our data with those of two earlier series showed that glomerular sclerosis and tubulointerstitial fibrosis are predictors of proteinuria and CKD stage. There was no histopathological evidence supporting a major role of vascular damage in the early pathogenesis of Fabry nephropathy in females.

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Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports.

Cited by 102 publications

References 5 publications

Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson–Fabry disease

Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson–Fabry disease

Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease

Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy

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