Fanconi syndrome
On the mechanism of renal potassium wasting in renal tubular acidosis associated with the Fanconi syndrome (type 2 RTA)
... the Fanconi syndrome (type 2 RTA) was investigated in 10 patients, each of whom had impaired proximal renal tubular reabsorption of bicarbonate as judged from a greater than 15-20% reduction of renal ...
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A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis
... It is suggested that hepatic dysfunction is not impli- cated in the pathogenesis of TIN, while on the other hand, TIN in the present case may be pathogenically related to PBC [7]. First, lymphocytic infiltration is a ...
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Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome
... syndrome patient achieved a normal muscle carnitine level after therapy. Muscle carnitine levels remained low in all cystinosis patients, even though cystinotic muscle cells in culture took up L-[3H]carnitine ...
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Denosumab improves clinical manifestations of hypophosphatemic osteomalacia by adefovir induced Fanconi syndrome: a case report
... including Fanconi syndrome, especially in Asian patients [2, 3, 8, ...regarding Fanconi syndrome associ- ated with long-term ADV therapy, even at low doses, in patients from Japan and other ...
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Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome
... with Fanconi syndrome but not cystinosis displayed the same abnormal pattern of plasma carnitine levels; controls with acidosis or a lysosomal storage disorder (Fabry disease), but not Fanconi ...
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De Toni Debré Fanconi syndrome in a patient with Kearns Sayre syndrome: a case report
... Case presentation: We report the case of an 18-year-old Romanian man with short stature, external ophthalmoplegia, palpebral ptosis, myopathy, sensorineural hearing impairment, cerebellar ataxia, cardiac conduction ...
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Rifampin-associated tubulointersititial nephritis and Fanconi syndrome presenting as hypokalemic paralysis
... of Fanconi syn- drome were completely ...and Fanconi syndrome in such patients, when the patient shows insidious clinical progress without ser- ious renal failure or crescentic ...
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Ectopic germinal center and megalin defect in primary Sjogren syndrome with renal Fanconi syndrome
... with Fanconi syndrome and those with tubulointerstitial nephritis (pSS + TIN) who did not present with proximal tubule ...+ Fanconi group had lower serum phosphorus level and more prominent ...
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TINU-associated Fanconi syndrome: a case report and review of literature
... We searched the MEDLINE database, using PubMed, for reports concerning TINU and Fanconi syndrome, be- tween 1975 and January 2018, mentioning Mesh terms “Fanconi syndrome”, “Nephritis” and ...
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Acquired Fanconi syndrome in patients with Legionella pneumonia
... Fanconi syndrome is a generalized dysfunction of the renal proximal tubules without primary glomerular involve- ...of Fanconi syndrome are caused by paraproteinemia, Sjögren syndrome, ...
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Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene
... dominant Fanconi syndrome in addition to the beta cell ...causing Fanconi syndrome and neonatal- onset hypoglycaemia, such as galactosaemia, tyrosinemia or mitochondrial diseases, were ruled ...
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HNF4A related Fanconi syndrome in a Chinese patient: a case report and review of the literature
... Renal Fanconi syndrome (FS) is a consequence of de- creased solute and water reabsorption in the proximal tubule of the ...clinical syndrome accompanied by hyperinsulinemic hypoglycemia and ...
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Membrane permeability as a cause of transport defects in experimental Fanconi syndrome A new hypothesis
... The injection of sodium maleate (200-400 mg/kg) into rats produces aminoaciduria along with glycosuria and phosphaturia, resembling the Fanconi syndrome. This experimental model was studied by means of ...
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Metabolic Abnormalities in the Idiopathic Fanconi Syndrome: Studies of Carbohydrate Metabolism in Two Patients
... A number of patients with the FS and glycogen- osis have been reported.2’1’ Some of these patients have had massive glucosuria, normoglycemia or hypoglycemia, diabetic glucose tolerance [r] ...
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Effect of Chronic Salt and Water Loading on the Tubular Defects of a Child With Fanconi Syndrome (Cystinosis)
... water and a supplement of sodium and potassium bicarbonate of 4 mEq/kg of body weight would. be optimal. Over a period of 24 months following[r] ...
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HYPOPLASTIC ANEMIA WITH MULTIPLE CONGENITAL DEFECTS (FANCONI SYNDROME)
... in his patient the life time of normal erythrocytes was considerably shortened, a finding which was confirmed by Gasser et al.’7 in Rohr’s second case (life time 16 days) and in their se[r] ...
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Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report
... dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell ...renal Fanconi ...
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<p>Low-dose adefovir dipivoxil–induced hypophosphatemia osteomalacia in five chronic hepatitis B virus–infected patients. Is low-dose adefovir dipivoxil–induced nephrotoxicity completely reversible?</p>
... observed to have persistently mild hypophosphatemia after long-term follow-up after the cessation of ADV. This was a rare fi nding in the other studies because ADV-induced nephrotoxicity in most cases was reported to be ...
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Iatrogenic Disorders
... Fanconi syndrome (adult type) developing secondary to the ingestion of outdated tetra- cycline. Skeletal pigmentation due to tetracycline. Complete pseudocho- linesterase[r] ...
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DISEASES OF THE RENAL TUBULES IN CHILDHOOD
... pathogenesis of the Fanconi syndrome, La- them et al.175 infused amino acids in acute clearance studies of normal persons, of pa- tients with known types of renal disease. and of one pat[r] ...
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