Cystinosis. A clinicopathological conference. 'From toddlers to twenties and beyond' Adult-Paediatric Nephrology Interface Meeting, Manchester 2001

Middleton, Rachel; Bradbury, Mark; Webb, Nicholas J.A.; O’Donoghue, Donal; Hoff, William van’t

doi:10.1093/ndt/gfg445

Cited by 32 publications

(17 citation statements)

References 9 publications

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“…Diagnostic tests demonstrate markedly increased levels of cystine crystals in either leukocytes or fibroblasts in cystinosis [21]. Additionally, diagnosis can be made by demonstrating cystine crystals in the bone marrow, lymph nodes or conjunctiva [21,22].…”

Section: Discussionmentioning

confidence: 99%

Cystinosis in Eastern Turkey

Doğan

Bulan

Kaba

et al. 2016

Journal of Pediatric Endocrinology and Metabolism

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We detected two distinct mutations, p.T7FX7 (c.18-21del4bp) and p.E227E (c.681 G>A) (homozygous), in the CTNS gene in 11 patients with cystinosis from the East Anatolian region of Turkey. Patients with a homozygous c.681 G>A (p.E227E) mutation are more likely to develop chronic renal failure and should be monitored closely, whereas patients with a p.T7FX7 (c.18-21del4bp) mutation have a milder phenotype. Additionally, metabolic alkalosis does not exclude cystinosis, although cystinosis is a cause of proximal renal tubular acidosis.

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Section: Discussionmentioning

confidence: 99%

Cystinosis in Eastern Turkey

Doğan

Bulan

Kaba

et al. 2016

Journal of Pediatric Endocrinology and Metabolism

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“…14 Cystinosis accounts for 5% of childhood renal failure. 5 Kidneys progressively lose function of their proximal tubular transporters; as a result, urinary loss of water, sodium, potassium, bicarbonate, calcium, magnesium, phosphate, amino acids, glucose, proteins, and many other solutes occurs.…”

Section: Discussionmentioning

confidence: 99%

“…In patients with cystinosis, there are increased levels of cystine in leukocytes or fibroblasts. 5 However, in some patients, increased levels of cystine crystals are also found in tissues (e.g., cornea, bone marrow). In our patient, we reached the final diagnosis by showing cystine crystals in the cornea.…”

Section: Discussionmentioning

confidence: 99%

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A Rare Case of Cystinosis Presenting with Alkalosis

Topaloğlu¹,

Tekin²,

Yildirim³

et al. 2012

Renal Failure

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A 14-month-old girl was admitted to our clinic due to failure to thrive. Her weight and height were below the third percentile for age. Laboratory examination showed signs of alkalosis, hypokalemia, and hypochloremia. However, her urinalysis was consistent with renal tubular acidosis. Radiologic examination showed signs of active rickets. Based on clinical and laboratory findings, we focused on the probable diagnosis of cystinosis. Slit-lamp examination of the cornea confirmed our diagnosis. We should note that the presence of alkalosis does not exclude the possibility of diagnosis of cystinosis and we should be aware that if any slight doubt of cystinosis exists, patients should be carefully and completely evaluated for diagnosis.

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“…Cysteamine first became available in the 1980s in the form of cysteamine hydrochloride. If commenced at diagnosis, cysteamine can prevent progressive glomerular dysfunction (secondary to tubular dysfunction) and delay the need for renal transplantation [1,8]. The most commonly reported side effects of cysteamine are skin rashes and central nervous system and gastrointestinal disturbance; a more uncommon side effect is leucopenia.…”

Section: Discussionmentioning

confidence: 99%

Cystinosis and lupus erythematosus: coincidence or causation

2010

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A 14-year-old boy with known stable cystinosis, treated with cysteamine since infancy, presented with a deterioration of renal function with haematuria in conjunction with a nodular rash, arthralgia, leucopenia, hypocomplementaemia and raised antinuclear antibodies. He was diagnosed with spontaneous onset of systemic lupus erythematosus (SLE), and his renal biopsy was consistent with lupus nephritis. It is unusual for patients with one severe disease to develop another disease process completely unrelated to their original condition, but it can occur. However, other distinct variants of lupus have been described, including drug-induced lupus (DIL), which have features that over-lap with SLE. The potential differential diagnosis of the SLE as a form of DIL in association with cysteamine is discussed.

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Cystinosis. A clinicopathological conference. 'From toddlers to twenties and beyond' Adult-Paediatric Nephrology Interface Meeting, Manchester 2001

Cited by 32 publications

References 9 publications

Cystinosis in Eastern Turkey

Cystinosis in Eastern Turkey

A Rare Case of Cystinosis Presenting with Alkalosis

Cystinosis and lupus erythematosus: coincidence or causation

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