The Fanconi syndrome with cystinosis

Jackson, Jessica; Smith, F.; Litman, Neil N.; Yuile, Charles L.; Latta, Harrison

doi:10.1016/0002-9343(62)90221-8

Cited by 47 publications

(4 citation statements)

References 12 publications

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“…Other authors have found 'immature' glomeruli in Alport's syndrome [8], in the Fanconi syndrome [34,401, and in congenital nephrosis [39]. The existence of these glomeruli in association with disease suggests that dysgenesis may be one of the possible mechanisms in the causation of hereditary nephritis.…”

Section: Discussionmentioning

confidence: 99%

Hereditary Nephritis: Early Clinical, Functional, and Morphological Studies

et al. 1969

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ExtractThe accumulation of literature on hereditary nephritis with or without nerve deafness attests to the increased awareness of the existence of this syndrome. I t is the purpose of this report to show that there are distinguishing histologic findings in young patients with minimal disease and normal renal function. Eleven patients were studied; 4 were females and 7 were males. Relevant family histories and clinical laboratory findings are shown in table I. I n all patients, hematuria, gross or microscopic, was present. Exacerbations of the hematuria occurred as a part of the exaggerated response of these patients to upper respiratory infection. Renal functional data are shown in table 11. These data were generally within normal limits for our laboratory. Table I11 outlines the morphologic findings observed on renal biopsy. In renal biopsies obtained from 10 patients, there was observed persistence of fetal-like glomeruli characterized by the circumferential crowding of visceral epithelium and an apparent decrease in the number of patent capillaries. The most striking finding in the tubules was the presence of red cells and red blood cell casts seen mainly in the distal and collecting tubules. Foam cells were an infrequent finding but, when present, were unassociated with interstitial fibrosis. Examination of kidney specimens under the electron microscope revealed the presence of at least three glomeruli in seven patients and of fetal-like glomeruli in all patients. There was also circumferential crowding of visceral epithelial cells, particularly at the surface, facing Bowman's capsule. These epithelial cells were characterized by large nuclei, small amounts of cytoplasm, apparently poorly developed intracytoplasmic organelles, and frequent villous-like cytoplasmic projections on the surface. I n families from whom past histories are unavailable, recognition of distinct renal biopsy characteristics would help identify this syndrome in the early stages of disease. At this stage, the combination of morphologic features considered to be characteristic would include the presence of a) fetal-like glomeruli, which were seen by electron microscopy in 7 patients and by light microscopy in 10 patients; b) mild to moderate hypercellularity ; c) large numbers of tubules filled with red blood cells and red blood cell casts; and d) foam cells in the absence of interstitial fibrosis. The fetal-like glomeruli present in our patients did not correspond to any of the normal stages of glomerular development observed under electron microscopy by other investigators, but rather, appeared to represent dysgenesis. Most patients from whom data are reported were more than 2 years of age, at which time fetal glomeruli are exceptional. Of interest was the observation that almost identical histology was found to exist among the siblings. ANTONOVYCH, DEASY, TINA, D'ALBORA, HOLLERMAN a n d CALCAGNO SpeculationT h e fetal-like glomeruli observed o n renal biopsy might b e the result of either a developmental abnormality or dysgenesis. T ...

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Section: Discussionmentioning

confidence: 99%

Hereditary Nephritis: Early Clinical, Functional, and Morphological Studies

et al. 1969

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“…Mitochondrial swelling has been described in renal biopsies from cystinotic patients. 28 , 29 Further research in animal models may give us a better understanding of the disease etiopathogenesis.…”

Section: Pathogenesismentioning

confidence: 99%

Treatment of corneal cystine crystal accumulation in patients with cystinosis

Shams

Livingstone

Oladiwura

et al. 2014

OPTH

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Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within the cells of different organs. Infantile nephropathic cystinosis is the most common and severe phenotype. With the success of renal transplantation, these patients are now living longer and thus more long-term complications within different organs are becoming apparent. Ophthalmic manifestations range from corneal deposits of cystine crystals to pigmentary retinopathy. With increasing age, more severe ocular complications have been reported. Photophobia is a prominent symptom for patients. With prolonged survival and increasing age, this symptom, along with corneal erosions and blepharospasm, can become debilitating. This review revisits the basic pathogenesis of cystinosis, the ocular manifestations of the disease, and the treatment of corneal crystals.

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“…It has been proposed by several groups that glutathione levels are limited and ATP is depleted, and disruption of glutathione-mediated protection from oxidative stress and/or ATP metabolism results in apoptosis of the cystinotic proximal tubular cells [49, 53, 56–63]. Swollen and morphologically abnormal mitochondria, increased mitophagy, and increased expression of caspase-4, a cysteine protease that plays a role in programmed cell death, have been observed in cystinotic tubular cells [49, 64]. …”

Section: Cystinosis Primarily Prevents Proximal Tubular Functions Andmentioning

confidence: 99%

Lysosome dysfunction in the pathogenesis of kidney diseases

2013

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The lysosome, an organelle central to macromolecule degradation and recycling, plays a pivotal role in normal cell processes, ranging from autophagy to redox regulation. Not surprisingly, lysosomes are an integral part of the renal epithelial molecular machinery that facilitates normal renal physiology. Two inherited diseases that manifest as kidney dysfunction are Fabry’s disease and cystinosis, each of which is caused by a primary biochemical defect at the lysosome resulting from loss of function mutations in genes that encode lysosomal proteins. The functions of the lysosomes in the kidney and how lysosomal dysfunction might contribute to Fabry’s disease and cystinosis are discussed. Unlike most other pediatric renal diseases, therapies are available for Fabry’s disease and cystinosis, but require early diagnosis. Recent analysis of ceroid neuronal lipofuscinosis type 3 (Cln3) null mice, a mouse model of lysosomal disease that is primarily associated with neurological deficits, revealed renal functional abnormalities. As current and future therapeutics increase the life-span of those suffering from diseases like neuronal ceroid lipofuscinosis, it remains a distinct possibility that many more lysosomal disorders that primarily manifest as infant and juvenile neurodegenerative diseases may also include renal disease phenotypes.

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The Fanconi syndrome with cystinosis

Cited by 47 publications

References 12 publications

Hereditary Nephritis: Early Clinical, Functional, and Morphological Studies

Hereditary Nephritis: Early Clinical, Functional, and Morphological Studies

Treatment of corneal cystine crystal accumulation in patients with cystinosis

Lysosome dysfunction in the pathogenesis of kidney diseases

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