1/21. Renal fanconi syndrome: first sign of partial respiratory chain complex IV deficiency.A 2-year-old boy who developed hypophosphatemic rickets without signs of muscular weakness or neurological disturbances is presented. Biochemical findings included hypophosphatemia, metabolic acidosis, hypouricemia, hyperphosphaturia, severe glucosuria, generalized hyperaminoaciduria, hypercalciuria, proteinuria with elevated excretion of IgG, transferrin, albumin and high levels of alpha-1-microglobulin. urine concentration capacity and creatinine clearance were normal. Lactaturia without elevated levels of plasma lactate and a high urinary excretion of beta-hydroxybutyrate were suggestive for mitochondriopathy. Partial deficiency of cytochrome c oxidase (complex IV of the respiratory chain) was found in skeletal muscle. A renal biopsy specimen demonstrated enlarged mitochondria with abnormal arborization and disorientation of the cristae in the proximal tubular cells. Reduced activity of mitochondrial cytochrome c oxidase in tubular cells could be demonstrated by ultracytochemistry. In conclusion, rickets due to the renal fanconi syndrome can be the first clinical sign of mitochondrial cytopathies without extra-renal symptoms. Elevated excretion of lactate and ketone bodies in urine may serve as a diagnostic marker.- - - - - - - - - - ranking = 1keywords = urinary (Clic here for more details about this article) |
2/21. The Fanconi-Bickel syndrome: a case of neonatal onset.A male newborn infant was recognized having Fanconi-Bickel syndrome (FBS) in the neonatal period. The presenting clinical findings were hyperglycemia and polyuria detected during an episode of acute enteritis. physical examination was normal, biochemical analyses were suggestive of FBS: glycosuria, proteinuria, phosphaturia, generalized aminoaciduria, and increased levels of urinary beta 2-microglobulin, serum glucose and serum alkaline phosphatase. The molecular genetic analysis showed homozygosity for mutations within the gene of the glucose transporter 2 (Glut 2), 1213 C>T. The patient demonstrated improved clinical and metabolic status following institution of diet with frequent small meals and galactose-free-milk as well as pharmacological treatment with phosphate and vitamin alpha-OH-D3. In conclusion, infants showing hyperglycemia and polyuria may be considered having FBS also in the neonatal period. Early institution of adequate caloric intake and replacement of electrolytes and vitamin d may avoid or reduce metabolic complications.- - - - - - - - - - ranking = 1keywords = urinary (Clic here for more details about this article) |
3/21. A rare case of combined syndrome of inappropriate antidiuretic hormone secretion and fanconi syndrome in an elderly woman.An 83-year-old Japanese woman was admitted to our hospital with severe hyponatremia (sodium, 108 mEq/L [108 mmol/L]), hypokalemia, hypochloridemia, hypocalcemia, hypophosphatemia, and hypouricemia. Despite low plasma osmolarity (232 mOsm/kg [232 mmol/kg]), urine osmolarity (320 mOsm/kg) was greater than that of plasma, and she had increased urinary sodium excretion (88 mEq/L [88 mmol/L]) and an unsuppressed high plasma level of antidiuretic hormone (ADH; 5.5 pg/mL [5.1 pmol/L]). These findings indicated that she had syndrome of inappropriate ADH secretion (SIADH). In addition, she had a generalized reabsorption defect of the proximal tubules, including decreased tubular reabsorption of phosphate, increased fractional excretion of uric acid, glycosuria despite a normal blood glucose level, and panaminoaciduria. Thus, combined SIADH and fanconi syndrome was diagnosed. The cause was thought to be the antidepressant paroxetine, which is a selective serotonin reuptake inhibitor (SSRI). Several of the abnormal values resolved within 1 week after discontinuation of this drug. Although the precise mechanism responsible was not elucidated, we report an extremely rare case of combined SIADH and fanconi syndrome, probably caused by short-term SSRI therapy.- - - - - - - - - - ranking = 1keywords = urinary (Clic here for more details about this article) |
4/21. adult fanconi syndrome secondary to kappa-light chain myeloma: improvement of tubular functions after treatment for myeloma.A 66-year-old man with kappa-light chain multiple myeloma had adult fanconi syndrome. Renal tubular transport abnormalities consisted of renal tubular acidosis, renal glycosuria, aminoaciduria, phosphaturia and renal hypouricemia. After therapy for multiple myeloma, urinary bence jones protein became undetectable, and all these renal tubular abnormalities except urate wasting were corrected. Histological examination revealed electron-dense tubular and rod-like deposits in proximal tubular epithelium. This clinical observation suggests that the renal tubular transport defects were secondary to the myeloma process, possibly due to Bence Jones proteinuria.- - - - - - - - - - ranking = 1keywords = urinary (Clic here for more details about this article) |
5/21. adult fanconi syndrome and liver cirrhosis.A female presenting primary adult fanconi syndrome and liver cirrhosis of obscure aetiology is described. The only other report of this association appeared over four decades ago and concerned a male patient who, however, was subsequently diagnosed as having Wilson's cirrhosis, a well-known cause of acquired fanconi syndrome. Therefore, the present report is the first account of primary fanconi syndrome with authentic cryptogenic liver cirrhosis. Since the chronic urinary amino acid leakage is not a pathogenetic mechanism of the cirrhotic process, we believe that this association in fortuitous.- - - - - - - - - - ranking = 1keywords = urinary (Clic here for more details about this article) |
6/21. The functional response to furosemide in a case of de Toni-Debre-Fanconi disease.The case of a 13-year-old boy with the advanced clinical picture of the idiopathic DeToni-Debre-fanconi syndrome is described, on whom acute studies of proximal tubular functions and of the effect of furosemide thereon were performed. sodium bicarbonate loading corrected the hyperchloremic acidosis, but induced an increase of urinary bicarbonate loss of over 20% of the filtered amount. furosemide corrected bicarbonate reabsorption in spite of the presence of metabolic alkalosis. The urinary excretion of alpha-amino nitrogen, glucose, and phosphates decreased and tubular reabsorption of the two latter increased under furosemide. On a chronic treatment with furosemide and dietary sodium chloride restriction, correction of hyperchloremic acidosis, hypophosphatemia and rickets was achieved.- - - - - - - - - - ranking = 2keywords = urinary (Clic here for more details about this article) |
7/21. Successful indomethacin treatment of two paediatric patients with severe tubulopathies. A boy with an unusual hypercalciuria and a girl with cystinosis.Two children were followed for severe congenital tubulopathies: a boy presented an excessive sodium, calcium and water excretion; a girl had cystinosis and a De Toni-Debre-fanconi syndrome. These renal defects were both associated with increased levels of plasma renin activity and aldosterone, and excessive urinary PGE1 production. They had been unresponsive to therapeutic attempts. Only indomethacin treatment was successful in reversing the biochemical abnormalities and improving the growth pattern.- - - - - - - - - - ranking = 1keywords = urinary (Clic here for more details about this article) |
8/21. Bacterial variants in urinary casts and renal epithelial cells.Casts with numerous and unusually large granules were seen in the urine of a child with renal Fanconi's syndrome. When the urine sediment was sealed under a coverslip for several days, many granules changed to filamentous bacterial variants that segmented and, finally, appeared as streptococcal-like forms. When the patient's blood was cultured by a special method, bacterial variants grew consistently, and frequently reverted to parent coccal forms, although conventional cultures were negative. Variants from blood cultures had the same morphology and staining properties as granules in casts and in cystic structures found within hypertrophied renal pelvic epithelial cells. Cryptic parasitization with bacterial variants probably occurs in many nephropathies. Variants are known to produce toxins and immunogens, which could lead to mesangial and basement membrane deposits as well as to occlusive reactions in the renal microcirculation.- - - - - - - - - - ranking = 4keywords = urinary (Clic here for more details about this article) |
9/21. adult fanconi syndrome progressing to multiple myeloma.A case of adult fanconi syndrome is described in which there was urinary excretion of kappa light chains. After 13 years the patient developed overt myeloma. She also developed an adenocarcinoma of the colon and an adenocarcinoma of the parathyroid gland. These findings are discussed in relation to the known association between adult fanconi syndrome, renal damage, and myeloma.- - - - - - - - - - ranking = 1keywords = urinary (Clic here for more details about this article) |
10/21. ASdult Fanconi's syndrome with renal tubular acidosis in association with renal amyloidosis: occurrence in a patient with chronic lymphocytic leukemia.In a patient with chronic lymphocytic leukemia, multiple renal tubular defects developed in association with urinary excretion of K light chain proteins and peritubular deposits and casts of amyloid. Proximal tubular dysfunction, resembling adult Fanconi's syndrome, was suggested by an increased urinary loss of phosphate and urate and glycosuria. Renal tubular acidosis with hypokalemia and a marked impairment of the urinary concentrating mechanism were also observed.- - - - - - - - - - ranking = 3keywords = urinary (Clic here for more details about this article) |
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