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cystinosis/بوتاسيوم

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مقالاتالتجارب السريريةبراءات الاختراع
الصفحة 1 من عند 16 النتائج

[Tubular handling of potassium in cystinosis].

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Seven patients with cystinosis (Ccr between 30 and 90 ml/m/1.73 m2), were studied attempting to delineate renal tubular handling of potassium. Ks, Ck/Ccr X 100, Aldou and UAldo V/Ks were determined in basal conditions; tubular handling of water and sodium, and clearance of potassium were studied

Unusual effects of potassium deficiency on the heart of a child with cystinosis.

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Cystinosis presenting with features suggesting Bartter syndrome. Case report and literature review.

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Features suggestive of Bartter syndrome (hypokalemia, hypochloremic metabolic alkalosis, and normal blood pressure despite hyperreninemia and hyperaldosteronism) were found in a 5-year-old black child with cystinosis and Fanconi syndrome. Review of his medical records revealed that these

Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis.

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Intralysosomal cystine crystal accumulation, due to mutations in the CTNS gene, is a hallmark of nephropathic cystinosis, but the role of these crystals in disease pathogenesis remains unclear. We hypothesized that, similar to other host-derived crystalline moieties, cystine crystals can induce

[Cystinosis from childhood to adulthood].

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
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Nephropathic cystinosis is a metabolic disease related to lysosomal cystine accumulation in almost all tissues of the body. The first symptoms set up from 5 or 6 months of age including anorexia vomiting polyurodipsia and failure to thrive associated with a proximal tubulopathy (glycosuria, tubular

Cystinosis with Fanconi's syndrome. A case report.

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A 19-year-old girl suffering from the nephropathic form of cystinosis presented with the full clinical and biochemical picture of Fanconi's syndrome. Polyuria, polydipsia and photophobia associated with severe growth retardation and rickets were the main clinical features. The essential biochemical

Effect of indomethacin on clinical progress and renal function in cystinosis.

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Three children with nephropathic cystinosis were treated with indomethacin 3 mg/kg a day for periods ranging from 9 to 18 months. The drug produced worthwhile clinical improvement in all, with marked beneficial effects on polyuria, polydipsia, and general wellbeing. Clearance studies performed under

Bartter syndrome associated with nephropathic cystinosis.

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Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalaemia), increased blood pH (alkalosis) and normal to low blood pressure. There are three types of Bartter syndrome: neonatal, the classic type and

Effect of chronic salt and water loading on the tubular defects of a child with Fanconi syndrome (cystinosis).

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
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A male child discovered to have cystinosis and Fanconi syndrome at the age of 2 years 8 months was hospitalized repeatedly for episodes of hyponatremic, hypokalemic dehydration and acidosis. Attempts to correct the fluid and electrolyte abnormalities by increasing progressively the supplements of

[Infantile cystinosis].

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Infantile cystinosis is a metabolic lysosomal storage disease of cystine affecting most of the body cells. The first symptoms appear after 5-6 months of life: anorexia, vomiting, polyuria, polydipsia and failure to thrive, associated with the signs of tubular Fanconi syndrome including glycosuria,

Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
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BACKGROUND The oculocerebrorenal syndrome of Lowe is an X-linked disorder whose clinical manifestations include congenital cataracts, mental retardation, and renal tubular dysfunction. We investigated growth, renal function, and serum chemistry values in patients with the oculocerebrorenal syndrome

The effect of ions and ionophores on cystine egress from human leucocyte lysosome-rich granular fraction.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
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This paper describes the stimulation of exodus of cystine from lysosome-rich granular fractions by potassium. Potassium permeability into lysosomes is low, but in the presence of an ionophore or permeable anion, the movement of K+ into lysosomes caused a large stimulation of cystine exodus.

[The initial presentation of renal tubular syndrome].

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History, clinical presentation and first laboratory results were analyzed in three patients with cystinosis and in three patients with distal renal tubular acidosis. Growth failure, gastrointestinal tract disturbances, polydipsia, and polyuria were the most constant findings on history. Patients

Growth hormone therapy for a patient with idiopathic Fanconi syndrome and growth hormone deficiency.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
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Idiopathic Fanconi syndrome (FS) is characterized by a generalized dysfunction of the renal proximal tubules. Patients with FS often exhibit growth retardation due to complex factors, such as hypophosphatemia, metabolic acidosis, disturbed vitamin D metabolism and hypokalemia. To date, one FS

Cystine dimethyl ester reduces the forces driving sodium-dependent transport in LLC-PK1 cells.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات
الدخول التسجيل فى الموقع
Cystinosis is an inherited metabolic disease characterized by accumulation of lysosomal cystine and renal impairment. In an attempt to better understand the link between cystine accumulation and renal functions, we studied the effects of cystine loading on the Na(+)-H+ antiporter and the sodium pump
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