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Pediatric Clinics of North America, 2019
Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis. Often there is hypokalemia, sodium wasting, and dehydration.
John W Foreman
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Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis. Often there is hypokalemia, sodium wasting, and dehydration.
John W Foreman
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World Journal of Pediatrics, 2023
Fanconi-Debré-de Toni syndrome (also known as Fanconi renotubular syndrome, or FRST) profoundly increased the understanding of the functions of the proximal convoluted tubule (PCT) and provided important insights into the pathophysiology of several kidney diseases and drug toxicities.We searched Pubmed and Scopus databases to find relevant articles ...
Anna Luiza Braga Albuquerque +7 more
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Fanconi-Debré-de Toni syndrome (also known as Fanconi renotubular syndrome, or FRST) profoundly increased the understanding of the functions of the proximal convoluted tubule (PCT) and provided important insights into the pathophysiology of several kidney diseases and drug toxicities.We searched Pubmed and Scopus databases to find relevant articles ...
Anna Luiza Braga Albuquerque +7 more
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Hyperuricosuria in the Fanconi syndrome
The American Journal of the Medical Sciences, 1977A patient with asymptomatic adult Fanconi syndrome with glycosuria, amino-aciduria, hypophosphatemia, and renal tubular acidosis was found to have hypouricemia (serum uric acid, 1.5-1.8 mg/100 ml) secondary to increased renal clearance of urate (urate clearance/glomerular filtration rate, 32 per cent).
A D, Meisel, H S, Diamond
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Klinische Pädiatrie, 1990
The Fanconi-Bickel syndrome is characterized by tubular dysfunction, impaired metabolism of glucose and galactose and glycogenosis. Up to now the data of nineteen patients have been reported. In the following case firstly an abnormal body composition is described measuring the concentration of Potassium-40 with a Whole Body Radiation Counter.
H C, Koch, R, Mallmann
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The Fanconi-Bickel syndrome is characterized by tubular dysfunction, impaired metabolism of glucose and galactose and glycogenosis. Up to now the data of nineteen patients have been reported. In the following case firstly an abnormal body composition is described measuring the concentration of Potassium-40 with a Whole Body Radiation Counter.
H C, Koch, R, Mallmann
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Cystinosis and the Fanconi Syndrome
Pediatric Clinics of North America, 1976Cystinosis is a recessively inherited metabolic disorder characterized biochemically by a high intracellular content of free (nonprotein) cystine which appears to be compartmentalized within lysosomes. This results in crystal deposition in the cornea, conjunctiva, bone marrow, lymph nodes, leukocytes, and internal organs.
J D, Schulman, J A, Schneider
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The Indian Journal of Pediatrics, 2011
We present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion
, Mohandas Nair K +3 more
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We present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion
, Mohandas Nair K +3 more
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Pediatric Nephrology, 1987
Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with Fanconi-Bickel syndrome. Long-term follow-up studies show severe growth retardation, partly compensated for by late onset of puberty. Glomerular filtration rate is normal or slightly decreased.
Friedrich Manz +10 more
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Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with Fanconi-Bickel syndrome. Long-term follow-up studies show severe growth retardation, partly compensated for by late onset of puberty. Glomerular filtration rate is normal or slightly decreased.
Friedrich Manz +10 more
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Journal of Chronic Diseases, 1958
Abstract It is now customary to refer to the triad of the skeletal lesions of hypophosphatemia (rickets or osteomalacia), renal aminoaciduria, and renal glycosuria as the Fanconi syndrome. This combination of physiologic disturbances results from impairment of renal tubule mechanisms which are concerned with tubular reabsorption of phosphate, amino ...
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Abstract It is now customary to refer to the triad of the skeletal lesions of hypophosphatemia (rickets or osteomalacia), renal aminoaciduria, and renal glycosuria as the Fanconi syndrome. This combination of physiologic disturbances results from impairment of renal tubule mechanisms which are concerned with tubular reabsorption of phosphate, amino ...
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The Journal of Bone and Joint Surgery. British volume, 1955
1. Metabolic balance studies in two cases of the Fanconi syndrome are presented. 2. The actions of sodium bicarbonate and calciferol on the calcium and phosphorus balance were observed separately in the two cases. 3. The results show that sodium bicarbonate alone corrects acidosis and decreases the loss of calcium in the urine. 4.
P D, SAVILLE +4 more
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1. Metabolic balance studies in two cases of the Fanconi syndrome are presented. 2. The actions of sodium bicarbonate and calciferol on the calcium and phosphorus balance were observed separately in the two cases. 3. The results show that sodium bicarbonate alone corrects acidosis and decreases the loss of calcium in the urine. 4.
P D, SAVILLE +4 more
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Renal Fanconi syndrome: taking a proximal look at the nephron. [PDF]
Nephrology Dialysis Transplantation, 2015 Renal Fanconi syndrome (RFS) refers to the generalized dysfunction of the proximal tubule (PT) (Kleta R. Fanconi or not Fanconi? Lowe syndrome revisited. Clin J Am Soc Nephrol 2008; 3: 1244-1245).
Detlef Bockenhauer +2 more
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