1/33. Lambda light chain induced nephropathy: a rare cause of the fanconi syndrome and severe osteomalacia.The fanconi syndrome is a generalized disorder of proximal renal tubular transport characterized by wasting of phosphate, amino acids, glucose, bicarbonate, and uric acid. The association of the acquired fanconi syndrome with lambda light-chain proteinuria is rare. We report the third case in the English language literature. A 65-year-old man presented with severe pelvic pain. Investigations showed an elevated serum creatinine level, and a 24-hour urine collection contained 2.56 g protein. The fanconi syndrome was diagnosed, with findings of phosphaturia, glycosuria, and aminoaciduria. bence jones protein (lambda sub-type) was present in the urine at a concentration of 0.58 g/L. Monocytic cells in the bone marrow and proximal tubular cells in the kidney contained cytoplasmic crystalline inclusions. Undecalcified bone sections confirmed the clinical diagnosis of osteomalacia. The patient was treated with phosphate, calcium, and ergocalciferol and experienced significant symptomatic improvement. The fanconi syndrome caused by light-chain deposition in proximal tubular cells is well described in the literature. However, it is rare for the light chains to be of the lambda subtype. This may reflect differences in the physicochemical properties of kappa and lambda light chains.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
2/33. 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 = 0.5keywords = bone (Clic here for more details about this article) |
3/33. Bilateral symmetric polyarthralgia revealing Fanconi's syndrome.We report the case of a 45-year-old woman who presented with a six-year history of diffuse polyarthralgia responsible for major disability. She reported bilateral symmetric arthralgia in nearly every joint, as well as back pain. Muscle wasting predominating in the roots of the limbs was found. Laboratory tests showed hypocalcemia, severe hypophosphatemia, hypokalemia, alkaline phosphatase elevation, aminoaciduria, and hyperphosphaturia, with no glycosuria. Radiographs disclosed osteolysis of the pubic symphysis, multiple pelvic fractures, vertebral compression fractures, and diffuse demineralization. A bone scan visualized symmetric foci of hyperactivity in nearly all joints and fracture sites. Dramatic improvements in clinical and radiographic abnormalities were noted after six months of treatment with phosphate and calcitriol. This is a case of incomplete fanconi syndrome, with no glycosuria. The clinical presentation of fanconi syndrome can be misleading. fanconi syndrome should be borne in mind as a possible cause of polyarthralgia to avoid diagnostic delay, which in our patient led to a picture of pseudomyopathy with multiple fractures.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
4/33. Fanconi's syndrome in hiv adults: report of three cases and literature review.We diagnosed Fanconi's syndrome (phosphate depletion and dysfunction of the renal tubules) in three hiv( ) patients. This was temporally related to their hiv treatment. physicians caring for patients with hiv should recognize the association of this rare syndrome with antiretroviral medications and monitor their patients carefully. INTRODUCTION: Fanconi's syndrome is caused by increased excretion of phosphate, glucose, amino acids, and other intermediary metabolites, and can result in osteomalacia. MATERIALS AND methods: We diagnosed this syndrome in three hiv( ) patients. RESULTS: The first was a 43-year-old woman referred for multiple painful stress fractures. She demonstrated hypophosphatemia, metabolic acidosis, phosphaturia, glucosuria, and generalized aminoaciduria. These abnormalities resolved with oral phosphate replacement and discontinuation of the antiretroviral medication tenofovir. The second patient was a 39-year-old man with hypophosphatemia and bone pain. His symptoms improved with discontinuation of adefovir and supplementation of phosphate, potassium, and calcitriol. The third patient was a 48-year-old man who presented with symptomatic tetany caused by hypocalcemia (total serum calcium of 6.5 mg/dl [8.5-10.5 mg/dl]). Nine months before presentation, he had been treated with cidofovir for retinitis caused by cytomegalovirus. With calcium, phosphate, potassium, and calcitriol therapy, his laboratory abnormalities improved substantially, although he continues to require daily electrolyte replacement. CONCLUSIONS: Each patient demonstrated generalized renal tubular dysfunction temporally related to treatment with antiretroviral drugs. The mechanism responsible for these abnormalities is not known; however, physicians caring for patients with hiv disease should recognize the association of Fanconi's syndrome with antiretroviral medications and monitor susceptible patients to prevent potential skeletal and neuromuscular complications.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
5/33. osteomalacia due to chemotherapy-induced fanconi syndrome in an adult patient.BACKGROUND: Chemotherapy-induced fanconi syndrome is a dangerous condition that could lead to severe electrolyte disturbances and rarely to osteomalacia. CASE: A patient treated with ifosfamide for a metastatic cervix squamous-cell carcinoma was admitted for diffuse, symmetric bilateral pain in bones and articulations. The diagnosis work-up revealed that she suffered from osteomalacia due to a chemotherapy-induced fanconi syndrome. The patient recovered completely with oral calcitriol supplements. CONCLUSIONS: This very rare chemotherapy-complication suggests that detection of potential tubular dysfunction, by regular serum electrolyte monitoring of patients receiving ifosfamide, may be a reasonable approach to diagnose early chemotherapy-induced fanconi syndrome, even in adults.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
6/33. Therapeutic approach in a case of Pearson's syndrome.Mitochondrial cytopathy is a multisystemic disease that requires different pharmacological and specialist approaches; although most therapies are usually of scarce effectiveness. We describe a clinical management of a very young girl with Pearson's syndrome that developed the symptoms of kearns-sayre syndrome. Many of symptoms were temporarily improved by the replacement therapy with hydrocortisone introduced to treat the partial adrenal insufficiency. During her life, she showed an ample clinical spectrum of symptoms because of multiple organs involvements: firstly bone marrow and, thereafter, brain, retina, inner ear, and kidney. Partial adrenal insufficiency, rarely described in mitochondrial disorders, was a distinctive characteristic of this case. When our patient was treated with hydrocortisone, in addition to ubiquinone and carnitine, the episodes of decompensation regressed and an improvement of the adrenal insufficiency, but only temporary reversion of the weakness of muscle, ophthalmoplegia and of the fatigue, were testified. Nevertheless, after a brief period of recovery, she developed the de Toni-Debre-fanconi syndrome and the reappearance of the neurological symptoms.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
7/33. Hypophosphataemic osteomalacia due to de Toni-Debre-fanconi syndrome in a 19-year old girl.osteomalacia associated with adult onset fanconi syndrome is thought to result from hypophosphataemia due to renal phosphate loss and relative 1,25-dihydroxyvitamin D3 deficiency. In this disorder, the impaired renal phosphate uptake occurs as part of a generalized tubular defect in association with other features such as bicarbonuria, glycosuria and aminoaciduria. fanconi syndrome is either hereditary--juvenile form--or is associated with various acquired or heritable diseases. In adults, the disease is similar to the juvenile form, but osteomalacia is a prominent feature. We report a sporadic, adult onset, hypophosphataemia in a 19-year old female patient who presented after puberty complaining of bone and joint pain and difficulty in walking following a minor fall. Radiological examination revealed numerous bilateral fractures of the ribs and pelvis while biochemical investigations showed combination of high phosphate clearance, low serum bicarbonate, glycosuria and glycinuria. Known causes of acquired renal tubular dysfunction were ruled out. The patient was diagnosed as having idiopathic fanconi syndrome and started on vitamin D3 (Alfacalcidol 1 mg/day) and oral phosphorus (Joulie Solution, 1.5 g/day), which led to resolution of symptoms and an increase in serum phosphate (from 0,54 to 0,71 mmol/l) within few months following the initiation of therapy. However, radiological re-examination showed no signs of fracture healing.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
8/33. Fanconi's syndrome, kappa light-chain myeloma, non-amyloid fibrils and cytoplasmic crystals in renal tubular epithelium.A 59-year-old woman with kappa light-chain myeloma had Fanconi's syndrome characterized by renal glycosuria, generalized aminoaciduria, bicarbonaturia and decrease of phosphorus and uric acid reabsorption. A bone marrow biopsy showed the presence of 27% of dystrophic plasma cells; the cytoplasm of these cells was intensely stained with anti-kappa light-chain monoclonal antibodies. By light microscopy, the renal biopsy revealed a tubulointerstitial nephritis without glomerular lesions and with intratubular casts. By immunofluorescence, no deposits were observed along the glomerular and tubular basement membranes, but a positivity with anti-kappa light chain was noticed in some tubular epithelia and casts. By electron microscopy, fibrils (35-nm diameter) were observed in the cytoplasm of proximal tubular cells. These fibrils were situated in vesicles (100- to 600-nm diameter) in the luminal side of tubular cells. In the basal pole of the cell, fibrils seemed to group in crystals (120- to 200-nm diameter). Only kappa light-chain protein was demonstrated in these fibrils and crystals by an immunoelectron microscopic technique. These data suggested the pathogenic role of the fibrils and crystals present in tubular epithelium in the tubular proximal syndrome.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
9/33. Renal tubular acidosis type 2 with Fanconi's syndrome, osteomalacia, osteoporosis, and secondary hyperaldosteronism in an adult consequent to vitamin D and calcium deficiency: effect of vitamin d and calcium citrate therapy.OBJECTIVE: To describe a unique example of renal tubular acidosis type 2 (RTA 2) in conjunction with Fanconi's syndrome and osteomalacia consequent to vitamin d and calcium deficiency in an adult without underlying gastrointestinal disease. methods: We review the clinical, hormonal, histomorphometric, and micro-computed tomographic findings and the response to therapy with vitamin d and calcium in our patient. RESULTS: On admission, a 33-year-old African American woman had the following laboratory findings: serum ionized calcium 3.8 mg/dL (0.95 mmol/L), venous pH 7.26, bicarbonate 20 mEq/L, chloride 111 mEq/L, alkaline phosphatase 1,192 U/L (20.26 microkat/L) (normal, 40 to 136 U/L), 25-hydroxyvitamin D <5 ng/mL (<12 nmol/L) (normal, 10 to 60 ng/mL), parathyroid hormone 1,620 pg/mL (165.2 pmol/L) (normal, 10 to 60 pg/mL), aldosterone 68.4 ng/dL (1,894.7 pmol/L) (normal, 4.5 to 35.4 ng/dL), supine plasma renin activity 19.8 ng/mL per hour (5.35 ng/L per second) (normal, 0.5 to 1.8 ng/mL per hour), and aminoaciduria. A lumbar spine bone density T-score was -4.6, and a femoral neck T-score was -4.9. An undecalcified tetracycline-labeled bone biopsy specimen showed severe osteomalacia, severe osteoporosis, and peritrabecular fibrosis. A small intestinal biopsy revealed normal findings. Results of an ammonium chloride loading test and a bicarbonate infusion test were consistent with RTA 2. After 24 months of vitamin d and calcium therapy, results of serum and urine chemistry studies and bicarbonate infusion normalized. The lumbar spine T-score improved to -2.0, and the femoral neck T-score improved to -2.7. Bone biopsy specimens demonstrated resolution of the osteomalacia. CONCLUSION: Nutritional vitamin d and calcium deficiency may cause RTA 2, Fanconi's syndrome, and osteomalacia in adults as well as in children.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
10/33. Severe rickets in Lowe syndrome: treatment with continuous nasogastric infusion.A boy with Lowe syndrome who manifested renal fanconi syndrome by severe hypophosphatemic rickets, failure to thrive, and metabolic acidosis failed to improve with conventional bolus therapy of phosphate and bicarbonate. He was then placed on home continuous nasogastric infusion of phosphate and bicarbonate in addition to caloric supplementation. Rapid reversal of metabolic acidosis and hypophosphatemia was achieved. There was significant improvement in clinical and radiological signs of rickets and in bone mineral content. After 9 months therapy, his ponderal age improved dramatically from 7.5 to 29.5 months and his statural age from 16 to 26 months. We conclude that continuous nasogastric infusion of phosphorus and bicarbonate is a useful alternative mode of therapy in patients with renal fanconi syndrome who are resistant to conventional bolus therapy.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
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