Adenine ; analogs & derivatives ; Fanconi Syndrome ; Humans ; Organophosphonates

Material and methods: All patients with open heart surgery under CPB was enrolled in a case-control study. RD is defined as creatinine clearance <60 ml/min. 8 risk factors such as pre-operative RD, duration of CPB and of aortic clamping, core temperature, hematocrit, perfusion pressure, hemoglobinuria, use of vasopressors. Results: 5 independent risk factors of RD during CPB are perfusion pressure below 50 mmHg lasting over 30 min (adjusted OR 8.77), CPB time> 120 min (adjusted OR 6.35), aortic clamping >60 min (adjusted OR 4.16), pre-operative RD (adjusted OR 2.98), hemoglobinuria (adjusted OR 2.68). Conclusions: 5 independent risk factos of RD during CPB are long and low perfusion pressure, long duration of CPB and of aortic clamping, pre-operative RD and hemoglobinuria.
Thoracic Surgery, Fanconi Syndrome, Risk Factors

Adefovir dipivoxil (ADV) is a nucleotide used as long-term therapy of chronic hepatitis B. Many published reports have shown that long-term high-dose therapy with adefovir can be associated with proximal renal tubular dysfunction resulting in significant hypophosphatemia, renal insufficiency and osteomalacia. We have encountered two patients who developed evidence of hypophosphatemic osteomalacia while on long-term low-dose adefovir therapy for chronic hepatitis B. We report on its clinical features and its potential resolution with cessation of the drug and supplementation with phosphate. We also reviewed the other published cases associated with hypophosphatemic osteomalacia after low-dose adefovir therapy. The symptoms and the hypophosphatemia improved after cessation of the drug and supplementation with phosphate in most cases. Patients taking adefovir long-term should receive regular investigation of the phosphate level and renal function.
Fanconi Syndrome ; Hepatitis B, Chronic* ; Hepatitis, Chronic* ; Humans ; Hypophosphatemia ; Kidney Diseases ; Osteomalacia* ; Renal Insufficiency

Crystalline nephropathy is a rare yet well-known condition associated with multiple myeloma and other light chain–secreting disorders. Paraproteins that are resistant to proteolysis crystallize within proximal tubular cells and cause light-chain proximal tubulopathy, which presents clinically as Fanconi syndrome. Podocytes are rarely affected, and the crystalline inclusions within podocytes are typically precipitated, yielding significant glomerular proteinuria. Here we report a case of extensive crystalline inclusions primarily within podocytes and proximal tubules that presented only with Fanconi syndrome and renal insufficiency. Despite the presence of extensive crystalline inclusions in podocytes and diffuse foot process effacement, the patient had no clinical evidence suggestive of podocyte injury.
Crystallins* ; Fanconi Syndrome ; Foot ; Humans ; Multiple Myeloma* ; Paraproteins ; Podocytes ; Proteinuria* ; Proteolysis ; Renal Insufficiency

Acute Kidney Injury ; etiology ; Fanconi Syndrome ; etiology ; Female ; Humans ; Lymphoma, Non-Hodgkin ; complications ; Middle Aged

Fanconi-Bickel syndrome (FBS, OMIM 227810), a rare autosomal recessive disorder of carbohydrate metabolism, is caused by SLC2A2 (GLUT2) mutations. The study reported 3 cases of FBS who were confirmly diagnosed by SLC2A2 gene analysis. The three patients showed typical features like glycogen storage disease and proximal renal tubular nephropathy. Homozygous splice-site mutation IVS8+5G>C (c.1068+5 G>C) was found in patient A and homozygous nonsense mutation c.1194T>A (p.Tyr398X) in patient B. Patient C harboured a missense mutation c.380C>A (p.Ala127Asp) and a de novo insertion c.970dupT (p.324TyrfsX392) which was not inherited from her parents. Four mutations were identified in the 3 Chinese FBS patients. Except IVS8+5G>C mutation, the other 3 mutations were novel in Chinese population. To the best of our knowledge, patient C may be the first FBS case worldwide with de novo mutation.
Fanconi Syndrome ; genetics ; Female ; Glucose Transporter Type 2 ; genetics ; Humans ; Mutation

Tenofovir disoproxil fumarate (TDF) is one of the most widely used treatment options for human immunodeficiency virus (HIV) and HBV infections. Despite its efficacy and safety, some cases of nephrotoxicity have been reported in the treatment of HIV patients. Even more recently, very few cases of Fanconi syndrome associated with tenofovir therapy in HBV monoinfection have been reported. Herein, we report a case of a 47-year-old male with an HBV monoinfection, who developed Fanconi syndrome and a secondary osteomalacia with multiple bone pain. After TDF withdrawal and supplementation of calcitriol, his renal function was reverted. Although the overall risk of TDF-associated nephrotoxicity is very low, both glomerular and tubular function should be monitored in patients undergoing TDF treatment.
Calcitriol ; Fanconi Syndrome* ; Hepatitis B virus ; Hepatitis B, Chronic* ; Hepatitis, Chronic* ; HIV ; Humans ; Kidney Tubules ; Male ; Middle Aged ; Osteomalacia ; Tenofovir

Cystinosis, an autosomal recessively inherited lysosomal storage disease, results from impaired transport of the amino acid cystine out of cellular lysosomes. The consequent accumulation and crystallization of cystine destroys tissues, causing growth retardation, Fanconi syndrome, renal failure, eye problems, and endocrinopathies. The gene for cystinosis, CTNS, was mapped to chromosome 17p13. The diagnosis of cystinosis was made by measuring the leukocyte cystine content. The presence of typical corneal crystals on slit-lamp examination is also diagnostic. Since treatment with cysteamine has proved extremely effective, early diagnosis and treatment are critical aspects. We experienced a typical case of cystinosis in a 12-year-old boy with growth retardation.
Child ; Crystallization ; Cysteamine ; Cystine ; Cystinosis* ; Diagnosis ; Early Diagnosis ; Fanconi Syndrome ; Humans ; Leukocytes ; Lysosomal Storage Diseases ; Lysosomes ; Male

Adefovir dipivoxil (ADV) is commonly used as an antiviral agent in the treatment of chronic hepatitis B or human immunodeficiency virus infection. Nephrotoxicity has been shown to occur at daily dosages of 60-120 mg. Fanconi's syndrome is a generalized dysfunction of the renal proximal tubular cells, which is usually accompanied by complications. Here we report a case of Fanconi's syndrome in a chronic hepatitis B patient who had been treated with a prolonged regimen of ADV at 10 mg/day. A 47-year-old man complained of severe back and chest-wall pain. He had chronic hepatitis B and had been treated with ADV at a daily dose of 10 mg for 38 months. He was hospitalized because of severe bone pain, and laboratory and radiologic findings suggested a diagnosis of Fanconi's syndrome with osteomalacia. After discontinuation of the ADV, he recovered and was discharged from hospital. His laboratory findings had normalized within 2 weeks. This case indicates that Fanconi's syndrome can be acquired by a chronic hepatitis B patient taking ADV at a conventional dosage of 10 mg/day. Therefore, patients treated with long-term ADV should be checked regularly for the occurrence of ADV-induced Fanconi's syndrome.
Adenine ; Fanconi Syndrome ; Hepatitis ; Hepatitis B ; Hepatitis B virus ; Hepatitis B, Chronic ; HIV ; Humans ; Middle Aged ; Organophosphonates ; Osteomalacia

Cadmium (Cd)-induced renal damage primarily affects the cellular and functional integrity of the proximal tubules. Cd intoxication is a rare cause of Fanconi syndrome. We report a 31-year-old woman with Fanconi syndrome confirmed by laboratory findings and a renal biopsy that also showed an elevated urinary Cd. Seven months before admission, the patient had a normal urinalysis and renal function. Six and 3 months before admission, the patient ingested Chinese herbal mixtures. On admission, the blood Cd concentration was normal, and the urine Cd concentration was 58 microgram/g of creatinine, 29-times higher than the normal range. A renal biopsy showed degeneration of the proximal tubules with normal glomeruli. The serum creatinine had increased from 1.2 to 3.2 mg/dL over 8 months. This case of Fanconi syndrome and rapidly progressive renal damage over a short period was associated with elevated urinary Cd levels.
Adult ; Asian Continental Ancestry Group ; Biopsy ; Cadmium ; Creatinine ; Fanconi Syndrome ; Female ; Humans ; Reference Values ; Renal Insufficiency ; Urinalysis