1/37. 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 = hypophosphatemic, rickets (Clic here for more details about this article) |
2/37. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with fanconi syndrome and low phosphorylase kinase activity.Fanconi-Bickel syndrome is characterized by hepato-renal glycogenosis with severe renal tubular dysfunction and rickets. It has recently been found to be associated with GLUT2 mutations in three families. In another family, low activities of liver phosphorylase kinase (Phk) have been observed, suggesting that Fanconi-Bickel syndrome might be genetically heterogeneous. We have analyzed this family for mutations in the GLUT2 gene and in the three Phk subunit genes that can cause liver glycogenosis (PHKA2, PHKB, and PHKG2). The coding sequences of all three Phk genes are normal but we have identified a homozygous missense mutation (Pro417Leu) in GLUT2. The affected proline residue is completely conserved in all mammalian glucose permease isoforms and even in bacterial sugar transporters and is believed to be critical for the passage of glucose through the permease. Seven affected individuals from different branches of the same large consanguineous sibship all are homozygous for this mutation. These findings indicate that there is no specific subtype of genetic Phk deficiency giving rise to hepato-renal glycogenosis. Rather, they provide further evidence that Fanconi-Bickel syndrome is caused by GLUT2 mutations. The low Phk activity is probably a secondary phenomenon that contributes to the deposition of glycogen in response to the intracellular glucose retention caused by GLUT2 deficiency.- - - - - - - - - - ranking = 0.12009480577621keywords = rickets (Clic here for more details about this article) |
3/37. fanconi syndrome following bowel surgery and hepatitis reversed by 25-hydroxycholecalciferol.A permature male infant required intravenous alimentation for six weeks following extensive surgery for ileal and cecal necrosis. At 3 months he developed evidence of hepatitis. Subsequently osteoporosis and the fanconi syndrome appeared. urine phosphate clearance was 83 percent of creatinine clearance at a serum phosphate concentration of 1.6 mg/dl. Concentration of plasma immunoreactive parathyroid hormone was elevated at 550 pg/ml. 25-Hydroxycholecalciferol was given at 240 mug/day. Aminoaciduria disappeared and bone healing occurred. serum phosphate rose to 6.5 mg/dl and phosphate clearance fell to 2 percent of creatinine clearance. Upon cessation of 25-OHCC therapy, the fanconi syndrome recurred despite administration of vitamin D2. 25-OHCC was then administered at 40 mug/day, and the urine abnormalities were reversed. The patient probably developed hyperparathyroidism, secondary malabsorption, and hepatitis. The fanconi syndrome was the consequence of the hyperparathyroidism. 25-OHCC therapy was more effective than vitamin d in reversing the disordered state, possibly because of impaired hepatic metabolism of vitamin D2.- - - - - - - - - - ranking = 0.0025901981317327keywords = vitamin (Clic here for more details about this article) |
4/37. A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.A North African boy, the son of consanguineous parents, presented at 8 years of age with hypophosphataemic rickets due to De Toni-Debre-fanconi syndrome. hepatomegaly and abnormalities of carbohydrate metabolism were suggestive of Fanconi-Bickel syndrome. This was confirmed by the detection of a mutation within GLUT2, the gene encoding the liver-type facilitative glucose transporter. The study of the respiratory chain revealed a deficiency of complexes I, III and IV in muscle. Mechanisms responsible for an impairment ofmitochondrial function, which we interpret as a secondary phenomenon, are discussed.- - - - - - - - - - ranking = 0.12009480577621keywords = rickets (Clic here for more details about this article) |
5/37. Tubular function and histological findings in ifosfamide-induced renal fanconi syndrome--a report of two cases.Two patients developed renal fanconi syndrome (RFS) after intensive long-term chemotherapy for metastatic Ewing sarcoma and disseminated neuroblastoma. Whereas RFS was diagnosed in patient 1 before he developed osteomalacia, patient 2 experienced severe rickets and growth retardation. Renal function studies revealed slight glomerular impairment and severe tubular defects leading to increased excretion of glucose, amino acids, inorganic phosphate and low molecular weight proteins, indicating proximal tubular damage. Patient 2 additionally showed distal tubular dysfunction with acidosis and diminished concentrating capacity. Renal biopsy in patient 1 revealed marked proximal tubular defects without interstitial lymphocytic infiltration. In both patients renal damage could most likely be ascribed to previous ifosfamide (IFOS) therapy. Our patients showed no improvement in renal function after cessation of IFOS treatment, indicating a poor prognosis of once established RFS after IFOS therapy. Measurement of tubular reabsorption capacities provides exact information on the extent of tubular toxicity induced by IFOS and may be used to monitor IFOS treated patients.- - - - - - - - - - ranking = 0.12009480577621keywords = rickets (Clic here for more details about this article) |
6/37. 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 = 0.0017267987544885keywords = vitamin (Clic here for more details about this article) |
7/37. Reversible hypophosphatemic rickets following ifosfamide treatment.A 7-year-old boy developed renal tubular dysfunction and hypophosphatemic rickets following treatment for relapsed embryonal rhabdomyosarcoma. Multi-agent chemotherapy included ifosfamide; the child received a total of 108 g/m2. The complete fanconi syndrome which ensued, including excessive loss of calcium, resolved spontaneously and progressively 18 months after the last dose of ifosfamide. The patient had no further symptoms of rickets and radiological signs had almost completely normalized. Further follow-up was not possible as, despite further treatment, the child died of progressive disease.- - - - - - - - - - ranking = 4.5196207768952keywords = hypophosphatemic, rickets (Clic here for more details about this article) |
8/37. An unusual cause of hypokalemic paralysis: aristolochic acid nephropathy with fanconi syndrome.Aristolochic acid nephropathy (AAN) with fanconi syndrome presenting as hypokalemic paralysis is extraordinarily rare and may be unrecognized. We describe a 41-year-old man who presented with the inability to ambulate upon awakening in the morning. physical examination revealed symmetric paralysis of bilateral lower limbs. Laboratory studies showed profound hypokalemia with renal potassium (K) wasting, hyperchloremic metabolic acidosis, hypophosphatemia with hyperphosphaturia, hypouricemia with hyperuricosuria, and glycosuria, consistent with fanconi syndrome. Mild renal insufficiency was also observed. A meticulous search for underlying causes of fanconi syndrome was unrevealing. However, a significant amount of aristolochic acid (AA) was detected in the consumed Chinese herb mixture (AA-I, 7 microg/g) for the treatment of his leg edema for the past 2 months. His hypokalemia, renal insufficiency, and fanconi syndrome completely resolved 2 months after the withdrawal of Chinese herb mixture and the supplementation of potassium citrate and active vitamin D3. AAN with fanconi syndrome should be considered as a cause of hypokalemia in any patient administered undefined Chinese herbs.- - - - - - - - - - ranking = 0.00086339937724423keywords = vitamin (Clic here for more details about this article) |
9/37. Idiopathic fanconi syndrome in a family. Part I. Clinical aspects.fanconi syndrome is a rare cause of rickets in children. Only six families with fanconi syndrome following an autosomal dominant pattern of inheritance have been reported. In this report, the results of clinical studies performed in three generations of a family of 39 members with autosomal dominant fanconi syndrome are presented. Twenty-one members of this family provided blood and urine for biochemical evaluation. Many family members have one or more tubular reabsorptive abnormalities; however, the complete fanconi syndrome was not present in most members. Three children with the complete syndrome all occur in the last generation. When the characteristic features of this family were compared with those of previously reported families with autosomal dominant fanconi syndrome, several differences became apparent. Two serious manifestations, diabetes mellitus and renal failure, which occur in previous reports did not occur in this family. This report provides information on apparently the largest number of affected individuals in a single family with fanconi syndrome. In addition, variable expressivity of tubular reabsorptive defects in a family with fanconi syndrome has never been reported.- - - - - - - - - - ranking = 0.12009480577621keywords = rickets (Clic here for more details about this article) |
10/37. ifosfamide, Fanconi's syndrome, and rickets.Three of 218 children treated with ifosfamide plus the uroprotectant mesna, in single- or combination-agent protocols, have developed Fanconi's renal syndrome, all of whom were in a subgroup of 86 children who had also received cisplatin or carboplatin therapy. patients receiving ifosfamide who have received prior cisplatin (or carboplatin) are at significantly higher risk of developing Fanconi's syndrome than are those who have received no prior nephrotoxic therapy (P = .04). The role of prior nephrotoxic therapy, including cisplatin and its derivatives, and the total dose of ifosfamide should be considered in the assessment of this rare but serious and apparently irreversible side effect.- - - - - - - - - - ranking = 0.48037922310482keywords = rickets (Clic here for more details about this article) |
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