Cases reported "Fanconi Syndrome"

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1/29. Clinical, biochemical, and pathological features in a patient with plasma cell dyscrasia and fanconi syndrome.

    multiple myeloma is associated with a wide array of renal diseases that include myeloma cast nephropathy, monoclonal immunoglobulin deposition disease, amyloidosis, cryoglobulinemia, tubular dysfunction, pyelonephritis, nephrocalcinosis, urate nephropathy, and infiltration by atypical plasma cells (or myeloma cells). Filtered immunoglobulin light chains may affect both the distal and, more frequently, the proximal tubule. Tubular abnormalities in patients with plasma cell dyscrasia may be more frequent than previously thought. A patient with a plasma cell dyscrasia is described, who presented with biochemical features consistent with fanconi syndrome. Immunoelectron microscopy performed on the renal biopsy confirmed the presence of kappa light chain immunoglobulin in intracytoplasmic crystals in proximal tubular epithelial cells. This report is one of a few demonstrating the presence of light-chain immunoglobulin in intratubular crystals in a human renal biopsy obtained from a patient with a plasma cell dyscrasia and fanconi syndrome.
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2/29. kearns-sayre syndrome associated with de Toni-Debre-fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency.

    We report a 43-year-old female with complete kearns-sayre syndrome, focal deficiency of cytochrome-c-oxidase (COX) and extensive deletion of the mtDNA in muscle fibers, which showed progressive insufficiency of the renal tubule: first hyperphosphaturia and hyperaminoaciduria and, later, also glucosuria (de Toni-Debre-fanconi syndrome), a syndrome to date rarely diagnosed in association with complete kearns-sayre syndrome. In our opinion, this case, in view of the relationships between retinal and kidney disorders, suggests a search for de Toni-Debre-fanconi syndrome in all patients with kearns-sayre syndrome also by quantitative and chromatographic methods for the assessment of aminoacids, phosphates and sugars in the urine.
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3/29. Saethre-Chotzen syndrome presenting with incomplete renal fanconi syndrome.

    Here we report on a patient with findings of acrocephaly, craniosynostosis, low frontal hairline, ptosis of eyelids, deviated nasal septum, broad great toes, moderate hallux valgus, bilateral symmetrical complete soft tissue syndactyly of toes 2 and 3, and partial soft tissue syndactyly of toes 4 and 5 consistent with the diagnosis of Saethre-Chotzen syndrome. Additionally, the patient had some unusual findings as part of generalized dysfunction of the renal tubules including hypophosphatemia with renal phosphate wasting, normocalcemic hypercalciuria, hypomagnesemia with renal magnesium wasting, low-molecular-weight proteinuria, decreased serum PTH levels, osteopenia, and nephrolithiasis. In the light of these findings, the diagnosis of incomplete renal fanconi syndrome was made. In conclusion, on the basis of the present findings, it is difficult to say whether renal tubular dysfunction are somehow connected to the Saethre-Chotzen syndrome or not. Therefore, we consider that this is probably just a coincident. However, further studies may show the connection between renal tubular dysfunction and Saethre-Chotzen syndrome.
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4/29. Renal injury from valproic acid: case report and literature review.

    A child with developmental delay and epilepsy developed glucosuria approximately 16 months after starting valproic acid therapy. Laboratory evaluation revealed global defects in proximal tubule function consistent with the De Toni-Debre-fanconi syndrome. Discontinuation of valproate led to complete recovery 5 months later. review of previously reported cases indicates that this complication is unique to children and reversible when the medication is discontinued.
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5/29. 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.
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6/29. Acquired fanconi syndrome induced by mixed Chinese herbs presenting as proximal muscle weakness.

    We report a rare case with acquired fanconi syndrome caused by mixed Chinese herbs, initially presenting as waddling gait and lower limb muscle atrophy. From a series of investigations, proximal renal tubule injury with functional defects and Chinese herb nephropathy were discovered. Hypophosphatemic osteomalacia and type II muscle fiber atrophy shown in muscle biopsy of left quadriceps may be associated with the sequelae of ingestion of mixed crude Chinese herbs. Aggressive and early alkali treatment with supplementation of phosphate and vitamin d restored the patient's metabolic and musculoskeletal abnormalities.
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7/29. Fanconi's syndrome induced by a monoclonal Vkappa3 light chain in Waldenstrom's macroglobulinemia.

    Fanconi's syndrome (FS) is a disorder of sodium-dependent proximal tubule reabsorption, which may complicate plasma cell disorders producing a free monoclonal light chain (LC). FS often occurs in the setting of smoldering myeloma and features cytoplasmic crystalline inclusions of monoclonal kappa LC in proximal tubular cells and malignant plasma cells. Although the clinical and pathological presentation may vary, including lack of crystal formation, monoclonal kappa LCs that underlie FS show a striking genetic and biochemical homogeneity: they almost always belong to the Vkappa1 subgroup of variability and originate from 2 germline genes, O2/O12 or O8/O18. Their variable domain sequences present unusual hydrophobic residues, responsible for the resistance to proteolysis, which leads to LC accumulation in the endocytic compartment of proximal tubule cells. We report a patient with slowly progressive Waldenstrom's macroglobulinemia and full-blown FS with accumulation of a monoclonal kappa LC within proximal tubules, but no detectable crystalline organization. This LC, which belonged to the unusual Vkappa3 subgroup and derived from the L2/L16 germline gene, showed no common substitution with previously described FS kappaI LC and was sensitive to trypsin digestion. These data show that molecular and biochemical characteristics of kappa LCs in patients with FS are more heterogeneous than initially suspected. Mechanisms other than resistance of LCs to endosomal proteolysis probably are involved in the pathogenesis of FS-associated plasma cell dyscrasias.
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8/29. Acute renal failure and fanconi syndrome in an AIDS patient on tenofovir treatment--case report and review of literature.

    Tenofovir disoproxil fumarate, a prodrug of tenofovir, is a potent nucleotide analogue reverse-transcriptase inhibitor with activity against human immunodeficiency virus (hiv). Although initially thought to be relatively safe with regards to nephrotoxic effects compared to its class drugs-adefovir and cidofovir, several cases of acute renal failure and proximal tubule dysfunction have been described in the last few months. We report another patient who developed fanconi syndrome while on tenofovir. Her condition improved on discontinuation of the drug. We also review the literature of all patients who have developed fanconi syndrome on tenofovir.
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9/29. Renal and skin involvement in a patient with complete kearns-sayre syndrome.

    We report on a 13-year-old girl with complete kearns-sayre syndrome (KSS) and unusual manifestations of anhidrosis and de Toni-Fanconi-Debre syndrome which preceded by several years the onset of KSS triad. Histochemical examination of skeletal muscle showed focal deficiency of cytochrome c oxidase (CCO). Southern blot analysis of mitochondrial dna (mtDNA) demonstrated a deletion of 5.4 kb in 60% of the total mtDNAs isolated from the muscle and kidney. On electron microscopy, epithelial cells of the proximal and distal renal tubules and the sweat glands showed an increased number of giant mitochondria with complicated and concentric cristae. This appears to be the first report of complete KSS associated with renal and skin involvement. Data obtained in this patient provide important information on the clinical heterogeneity and tissue specificity of CCO deficiency.
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10/29. Nephrotoxicity in a child with perinatal hiv on tenofovir, didanosine and lopinavir/ritonavir.

    Tenofovir-related tubule damage characterized by fanconi syndrome, renal insufficiency and nephrogenic diabetes insipidus has been reported in the adult hiv-infected population. To our knowledge there has been no reported case of such complications in the pediatric population. We report the case of a 12-year-old perinatally hiv-infected African-American girl who developed nephrogenic diabetes insipidus, renal insufficiency and Fanconi-like syndrome while taking tenofovir (Viread) in combination with lopinavir-ritonavir (Kaletra) and didanosine (Videx).
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