Long-Term Treatment of Infantile Nephropathic Cystinosis with Cysteamine

Va, da Silva; Rp, Zurbrügg; Lavanchy, P; Blumberg, A; Suter, Hugh A.; Wyss,; Cm, Lüthy; Oh, Oetliker

doi:10.1056/nejm198512053132307

Cited by 56 publications

(16 citation statements)

References 14 publications

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“…In contrast, oral cysteamine therapy represents an attractive targeted therapeutic modality. Long-term oral cysteamine administration in patients with cystinosis [4] has been shown effective in decelerating glomerular deterioration [16, 17], eliminating signs and symptoms of encephalopathy and the gross abnormalities on MRI [18], depleting cystine in parenchymal organs (liver and muscle) [19], and lowering the frequency of hypothyroidism [20], swallowing abnormalities [21], coronary artery and other vascular calcifications [22], and posterior eye segment defects [23]. As we view cystine accumulation in the bone marrow a likely contributor to this patient’s pancytopenia, oral cysteamine administration represents the promising available therapy.…”

Section: Discussionmentioning

confidence: 99%

Hematological Manifestations of Nephropathic Cystinosis

Emadi

Burns²,

Confer

et al. 2008

Acta Haematol

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Pancytopenia is an uncommon manifestation of cystinosis, a congenital lysosomal storage disease. We describe a 34-year-old patient with nephropathic cystinosis with multisystem involvement who developed progressive bone marrow failure after renal transplantation. Bone marrow examination demonstrated widespread deposition of cystine crystals in histiocytes and in the background. We review the literature on the hematologic manifestations of cystinosis and discuss the available treatment options for patients with bone marrow failure secondary to cystine accumulation. The availability of effective oral therapy and the limited activity of hematopoietic growth factors in these patients highlight the importance of bone marrow examination early in the evaluation of cystinosis patients with abnormal blood counts.

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Section: Discussionmentioning

confidence: 99%

Hematological Manifestations of Nephropathic Cystinosis

Emadi

Burns²,

Confer

et al. 2008

Acta Haematol

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“…The transport defect involves a single aminoacid, cystine. Significant biochemical and clinical improvement of the disease can be achieved upon treatment with cysteamine (35,36). This compound specifically depletes lysosomes of cystine (37,38), making cystinosis the only pharmacologically treatable lysosomal storage disease.…”

Section: Discussionmentioning

confidence: 99%

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

Mancini¹,

Beerens²,

Aula³

et al. 1991

J. Clin. Invest.

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A defective efflux of free sialic acid from the lysosomal compartment has been found in the clinically heterogeneous group of sialic acid storage disorders. Using radiolabeled sialic acid (NeuAc) as a substrate, we have recently detected and characterized a proton-driven carrier for sialic acid in the lysosomal membrane from rat liver. This carrier also recognizes and transports other acidic monosaccharides, among which are uronic acids. If no alternative routes of glucuronic acid transport exist, the disposal of uronic acids can be affected in the sialic acid storage disorders. In this study we excluded the existence of more than one acidic monosaccharide carrier by measuring up-

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“…Leucocyte cystine measurements are used to gauge compliance and adequacy of dosing [69]. In the 1980s and 1990s, long-term oral administration of cysteamine was shown to retard the rate of renal glomerular deterioration and to improve linear growth of children with cystinosis [11,71]. Later, retrospective analysis of 30 years of experience at the National Institutes of Health demonstrated much improved creatinine clearance and growth in cysteamine-treated compared with those in untreated patients [12].…”

Section: Treatment Of Symptomsmentioning

confidence: 99%

Nephropathic cystinosis: late complications of a multisystemic disease

2008

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Cystinosis is a rare autosomal recessive disorder due to impaired transport of cystine out of cellular lysosomes. Its estimated incidence is 1 in 100,000 live births. End-stage renal disease (ESRD) is the most prominent feature of cystinosis and, along with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, has accounted for the bulk of deaths from this disorder. Prior to renal transplantation and cystine-depleting therapy with cysteamine for children with nephropathic cystinosis, their lifespan was approximately 10 years. Now, cystinotic patients have survived through their fifth decade, but the unremitting accumulation of cystine has created significant non-renal morbidity and mortality. In this article we review the classic presentation of nephropathic cystinosis and the natural history, diagnosis, and treatment of the disorder's systemic involvement. We also emphasize the role of oral cysteamine therapy in preventing the late complications of cystinosis.

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Long-Term Treatment of Infantile Nephropathic Cystinosis with Cysteamine

Cited by 56 publications

References 14 publications

Hematological Manifestations of Nephropathic Cystinosis

Hematological Manifestations of Nephropathic Cystinosis

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.

Nephropathic cystinosis: late complications of a multisystemic disease

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