Cystinosis

Kleta, Robert; Gahl, William A.

doi:10.1097/01.asn.0000027098.90648.f2

Cited by 11 publications

(9 citation statements)

References 37 publications

(32 reference statements)

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“…These products, independent of cystinosin, can exit the lysosome and be metabolized to deplete intracellular cystine stores. Like many sulfhydryl-containing agents, cysteamine tastes and smells foul and 10–15% of the patients cannot tolerate it [6]. In the past, our patient was unable to tolerate cysteamine because of severe nausea, vomiting and gastrointestinal discomfort.…”

Section: Case Reportmentioning

confidence: 87%

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: Case Reportmentioning

confidence: 87%

Hematological Manifestations of Nephropathic Cystinosis

Emadi

Burns²,

Confer

et al. 2008

Acta Haematol

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“…Essential diagnostic studies recommended for management of adult, post-transplant late complications of NC include:Laboratory studies, including renal function tests, endocrine panels with glucose tolerance test will assess for diabetes [59]A leucocyte cystine measurement should be performed every 1–2 years for compliance and dose adjustment [60–62]Modified barium swallow video fluoroscopy is important for patients with advanced cystinosis (Fig. 2).…”

Section: Late Post-transplant Complicationsmentioning

confidence: 99%

“…A leucocyte cystine measurement should be performed every 1–2 years for compliance and dose adjustment [60–62]…”

Section: Late Post-transplant Complicationsmentioning

confidence: 99%

Cystinosis: the evolution of a treatable disease

2012

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Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease was transformed into a treatable disorder. Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important. In this article, we offer a review of the manifestations of cystinosis, including the proximal tubular dysfunction of renal Fanconi syndrome, and discuss the prevention and treatment of the disorder’s systemic complications. We focus on the nephropathic forms of cystinosis, aiming to assist nephrologists and other physicians to develop early recognition and appropriate management of cystinosis patients.

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“…It tastes and smells foul, and 10-15% of patients do not tolerate a full dosing regimen [74]. Many patients suffer nausea, vomiting and gastrointestinal discomfort, perhaps due to stimulation of gastric acid and gastrin production [75]; proton pump inhibitors may be helpful in this regard.…”

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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Cystinosis

Cited by 11 publications

References 37 publications

Hematological Manifestations of Nephropathic Cystinosis

Hematological Manifestations of Nephropathic Cystinosis

Cystinosis: the evolution of a treatable disease

Nephropathic cystinosis: late complications of a multisystemic disease

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