Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy

Nesterova, Galina; Williams, Caitlyn Marie; Bernardini, Isa; Gahl, William A.

doi:10.1007/s00467-014-3018-x

Cited by 47 publications

(58 citation statements)

References 26 publications

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“…Without cysteamine treatment, renal glomerular damage progresses inexorably, culminating in end‐stage kidney disease (ESKD) by approximately 10 years of age and requiring dialysis or kidney transplantation; patients with cystinosis do well following renal transplantation. Oral cysteamine therapy drastically lowers intracellular cystine and, while it does not ameliorate the Fanconi syndrome, slows the progression of CKD, delays the need for renal replacement therapy, enhances growth, and prevents late complications of the disease . The recommended dosage is 60 to 90 mg/kg/d or 1.3‐1.95 g/m 2 /d, intended to achieve a leukocyte cystine level <1.0 nmol half‐cystine/mg of protein.…”

Section: Cystinosis Backgroundmentioning

confidence: 99%

Management of bone disease in cystinosis: Statement from an international conference

Hohenfellner

Rauch

Ariceta

et al. 2019

J of Inher Metab Disea

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Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionists, ophthalmologists, endocrinologists, neurologists' geneticists, and orthopedic surgeons. Treatment with cysteamine can delay or prevent most clinical manifestations of cystinosis, except the renal Fanconi syndrome. Virtually all individuals with classical, nephropathic cystinosis suffer from cystinosis metabolic bone disease (CMBD), related to the renal Fanconi syndrome in infancy and progressive chronic kidney disease (CKD) later in life. Manifestations of CMBD include hypophosphatemic rickets in infancy, and renal osteodystrophy associated with CKD resulting in bone deformities, osteomalacia, osteoporosis, fractures, and short stature. Assessment of CMBD involves monitoring growth, leg deformities, blood levels of phosphate, electrolytes, bicarbonate, calcium, and alkaline phosphatase, periodically obtaining bone radiographs, determining levels of critical hormones and vitamins, such as thyroid hormone, parathyroid hormone, 25(OH) vitamin D, and testosterone in males, and surveillance for nonrenal complications of cystinosis such as myopathy. Treatment includes replacement of urinary losses, cystine depletion with oral cysteamine, vitamin D, hormone replacement, physical therapy, and corrective orthopedic surgery. The recommendations in this article came from an expert meeting on CMBD that took place in Salzburg, Austria, in December 2016.

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Section: Cystinosis Backgroundmentioning

confidence: 99%

Management of bone disease in cystinosis: Statement from an international conference

Hohenfellner

Rauch

Ariceta

et al. 2019

J of Inher Metab Disea

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“…Close monitoring of serum sodium is advisable. Other, rarer renal diseases, such as nephropathic cystinosis with Fanconi syndrome, often require electrolyte supplementation, including phosphorus, orally or via G-tube to support growth [20,21]. Cardiovascular disease (CVD) is the leading cause of death in both children and adults with chronic and end-stage kidney disease (ESRD).…”

Section: A Life Course Approach To the Renal Diet: Integration With Ementioning

confidence: 99%

Nutrition Management in Childhood Kidney Disease: an Integrative and Lifecourse Approach

Graf

Reidy

Kaskel

2015

Pediatric Nephrology

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“…The diagnosis of NC can be determined by means of genetic tests or by observation of cystine crystals in the cornea (through slit‐lamp examination), bone marrow (through myelogram), and kidney (through renal biopsy). NC can also be confirmed by measuring the level of cystine in the circulating polymorphonuclear leukocytes, which is increased . The proposed treatment for INC and JNC consists in using specific medication (eg, cysteamine bitartrate) to mitigate the accumulation of cystine within the cells, which improves the prognosis.…”

Section: Introductionmentioning

confidence: 99%

“…1 Accumulation of cystine within the kidneys results in loss of glomerular function and chronic renal failure (CRF) at around 10 years old, which may lead to kidney transplantation. 4 Affected individuals may develop hypothyroidism, hypogonadism, diabetes, exocrine pancreatic insufficiency, liver failure, decreased pulmonary function, myopathies, and deterioration of the central nervous system. 2,5 The incidence of NC ranges from 1:100 000 to 1:200 000 live births, being higher in some regions of northern Europe.…”

Section: Introductionmentioning

confidence: 99%

“…NC can also be confirmed by measuring the level of cystine in the circulating polymorphonuclear leukocytes, which is increased. 4,7 The proposed treatment for INC and JNC consists in using specific medication (eg, cysteamine bitartrate) to mitigate the accumulation of cystine within the cells, which improves the prognosis. This therapy should be initiated early and continued throughout life.…”

Section: Introductionmentioning

confidence: 99%

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Oral alterations in patients with cystinosis

Tuma

Ordóñez-Aguilera

Rodriguez

et al. 2019

Special Care in Dentistry

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Cystinosis is a rare autosomal recessive lysosomal storage disorder, which leads to abnormal accumulation of cysteine in various organs, including progressive dysfunction of kidneys. The most severe and frequent form, affecting ∼95% of patients, is termed infantile nephropathic cystinosis (NC) (OMIM 219800). We have reported oral findings in two patients with NC and described esthetic and functional rehabilitation in one of them. The first case describes a 16‐year‐old male patient, who was diagnosed with NC when he was 1‐year‐old. The patient exhibited generalized enamel hypoplasia, grade 1 drug‐induced gingival overgrowth, caries lesion in molar tooth and supernumerary tooth (ie, distomolar). The second case describes a 14‐year‐old male patient diagnosed with NC at 3 years old. Clinical examination revealed generalized enamel hypoplasia and grade 1 drug‐induced gingival overgrowth. Radiographic examination showed supernumerary tooth (mesiodens). The treatment included gingivoplasty and restoration with direct composite resin. The severity of hypoplasia highlights the importance of a dental rehabilitation treatment, as proposed here. Direct restoration with composite resin allowed harmony, function, and esthetics to be restored, in addition to being a rapid and low‐cost technique.

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Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy

Abstract: Greater compliance with oral cysteamine therapy yields greater preservation of renal glomerular, but not tubular, function. Oral cysteamine therapy should be given at the maximum tolerated dose, within the recommended limits.

Cited by 47 publications

References 26 publications

Management of bone disease in cystinosis: Statement from an international conference

Management of bone disease in cystinosis: Statement from an international conference

Nutrition Management in Childhood Kidney Disease: an Integrative and Lifecourse Approach

Oral alterations in patients with cystinosis

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