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PubMedDate not supplied

Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion.

Fanconi syndrome is a complex of renal tubular dysfunctions defined by glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalemia, hypophosphatemia, and rickets or osteomalacia. Although it is usually found in the setting of other well-established non-renal diseases, Fanconi syndrome may present without identifiable etiology or association. Very infrequently a patient with idiopathic Fanconi syndrome will progress to chronic renal failure. This case report details the course of such a patient over the 20 years since his diagnosis and discusses the syndrome's genetic background, clinical features, putative pathophysiology, and therapeutic options, including transplantation.

Adult↗
PubMed1991

Aminoaciduria as a marker of acute renal transplant rejection--a patient study.

Over 12 months, urine samples were systematically collected from 40 children who underwent renal transplantation for the treatment of end-stage renal disease. Sequential determinations of the excretion of individual amino acids relative to that of creatinine were carried out on 15 subjects. Nine of these (including three who sustained episodes of acute rejection) retained a native kidney in-situ, while in six patients (including three who underwent an episode of acute rejection) both native kidneys had been removed. In both subgroups, the amino acid/creatinine ratios of early morning urine samples were higher shortly before clinical manifestations of acute rejection became evident than in patients who, following renal transplantation, had stable kidney function, chronic graft rejection, or acute tubular necrosis, with one exception: a patient with one native kidney in-situ in whom acute tubular necrosis developed immediately after transplantation. The amino acids showing the greatest increase included Thr, Ser, Gly, and Ala. These values fell dramatically immediately prior to the clinical episode of acute rejection, with Thr, Ala, and Phe showing the most consistent changes. These alterations in urinary amino acid excretion occurred several days before changes in urinary protein excretion or the serum concentrations of urea and creatinine, and may have a role to play in the monitoring of renal transplant recipients.

Adolescent↗
PubMed1990

Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following longterm lithium administration.

We report a patient who developed persistent nephrogenic diabetes insipidus associated with renal tubular acidosis, renal resistance to parathyroid hormone, aminoaciduria and proximal tubule pattern proteinuria in the presence of a reduced glomerular filtration rate (19-24 ml/min). A review of the previous reports of persistent nephrogenic diabetes insipidus revealed that in all patients the glomerular filtration rate had been less than 60 ml/min at presentation. Chronic renal failure may therefore predispose to the development of persistent nephrogenic diabetes insipidus in patients receiving lithium.

Acidosis, Renal Tubular↗
PubMed1978

Metabolic disorders in acute myeloid leukaemia.

Metabolic balance studies were carried out in 17 unselected patients with acute myeloid leukaemia. Widespread metabolic disturbances were observed. Serum Na fell below 135 mmol/1 in 14 patients (82%) and 11 patients (64%) developed hypokalaemia. An increased osmolal clearance caused by a release of electrolyte and blast cell waste (i.e. urea, urate, etc.) during chemotherapy appeared to be the principle cause of natriuresis and hyperkaluria. Seven patients had proteinuria before and eight others developed it during antileukemic therapy. Nine patients (53%) developed proximal renal tubular dysfunction with aminoaciduria, hyperphosphaturia and incomplete reabsorption of urate. No significant relation was found between this widespread glomerulo-tubular dysfunction and lysozymuria. We suggest that antileukaemic drugs release unidentified substances from blast cells which are toxic to the kidney. Metabolic alkalosis in six patients (35%) was probably related to volume depletion and hypokalaemia, while two patients developed acidaemia with the onset of renal failure. Hypocalcemia in seven patients (41%) had a multifactorial basis: hyperphosphaturia, septicaemia, malnutrition and cytotoxic drugs were among the probable causes.

Fludrocortisone↗
PubMed1969

Adult Fanconi syndrome and multiple myelomatosis.

A case is described of a 59-year-old woman presenting with multiple renal tubular defects. The aminoaciduria was of a generalized type. When investigated initially the only feature of myelomatosis was urinary Bence-Jones protein. Two years later radiologically classical multiple myelomatosis developed and rapidly progressed to the patient's death nine months later.

Amino Acids↗
PubMed1977

Rickets in adult cystic fibrosis with myopathy, pancreatic insufficiency and proximal renal tubular dysfunction.

Rickets is reported in a 19 year old white man with cystic fibrosis in whom pancreatic and hepatic involvement was advanced. There was evidence of secondary hyperparathyroidism with proximal renal tubular acidosis, aminoaciduria, phosphaturia and hypophosphatemia. Treatment with oral pancreatic and parenteral vitamin D supplements led to full recovery of the rachitic syndrome and the proximal renal tubular dysfunction.

Adult↗
PubMed1976

Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus.

Adult-onset osteomalacia with multiple renal tubular defects and generalized aminoaciduria is uncommon, and where familial it is characteristically an autosomal recessive disorder. This paper describes a kindred in which the syndrome has appeared in four successive generations, apparently inherited in a dominant manner, and possibly associated with diabetes mellitus. The proposita had hypophosphataemia, renal glycosuria, proteinuria and generalized aminoaciduria, and at the age of 22 developed symptoms of osteomalacia which responded to treatment with oral phosphate. Her father had been similarly affected: renal glycosuria was first noted when he was 24, and 12 years later he developed diabetes mellitus from which he died. One sister, aged 31, has renal glycosuria, aminoaciduria and hypophosphataemia without bone disease. In the three preceding generations at least seven other individuals had crippling bone disease and profound muscle weakness of early adult onset; in four, preterminal polydipsia was recorded, and others had renal glycosuria or diabetes mellitus. Three of the five children in the latest generation have slight proteinuria but not other detectable abnormality. The possible association between these renal tubular defects and diabetes mellitus is discussed.

Adolescent↗
PubMed1986

[Acute tubulo-interstitial nephritis combined with uveitis (clinical case and review of the literature)].

The authors have presented a review of literature and their own data on acute tubulointerstitial nephritis combined with uveitis in a patient aged 47. In foreign literature this combination is defined as a separate syndrome (TIN-uveitis or TINU). The development of nonspecific symptoms (fatigue, weakness, nausea, loss of body mass, pains in the joints, skin rash) was characterized by change in some laboratory indices (raised ESP, anemia, eosinophilia, hyperproteinemia, hypergammaglobulinemia) and nephropathy. The signs of nephropathy were polyuria, a decrease in relative urine density, proteinuria of tubular genesis, renal glucosuria and aminoaciduria. A decrease in glomerular filtration and an increase in the level of blood serum creatinine were noted in most of the cases. In spite of the development of renal failure TINU prognosis is favorable: renal function gets back to normal by itself or after corticosteroid therapy. Uveitis shows a tendency to recurrence. The immune genesis of the TINU syndrome is assumed.

Acute Disease↗
PubMed1991

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.

Bone Marrow↗
PubMed1991

A phase I trial of high-dose diaziquone and autologous bone marrow transplantation: an Illinois Cancer Council study.

Diaziquone (AZQ), a synthetic quinone with demonstrated activity against acute nonlymphocytic leukemia (ANLL), primary CNS tumors, and non-Hodgkin's lymphoma (NHL), is virtually devoid of nonhematopoietic toxicity at conventional doses. As a prelude to its inclusion into bone marrow transplant (BMT) preparative regimens, a phase I study of high-dose AZQ with autologous BMT (ABMT) was performed. Patients with refractory solid tumors and lymphomas were treated with a single 24-hour infusion of AZQ at 50 to 355 mg/m2 in dose escalations of 20%. Fifty-six patients received 69 courses. Those receiving greater than 60 mg/m2 had nadir granulocyte and platelet counts less than 500/microL and 20,000/microL, respectively. Nausea, vomiting, stomatitis, and diarrhea were mild, transient, and not dose-related. Transient minimal elevations of liver function tests were seen in five patients and were also not dose-related. The maximally tolerated dose (MTD) of high-dose AZQ was found to be 245 mg/m2, with nephrotoxicity being dose-limiting. Significant azotemia was seen in four of 12 patients treated at 295 and 355 mg/m2, including fatal anuric renal failure in three of these patients. Reversible proteinuria also occurred in 24 of 26 courses above 150 mg/m2, including nephrotic range proteinuria in eight courses, all at doses of 205 to 355 mg/m2. The proteinuria was also associated with multiple proximal tubular defects including generalized aminoaciduria and proximal renal tubular acidosis. There were six early deaths including two of early renal failure (295 and 355 mg/m2), two of sepsis (205 and 245 mg/m2), one of a pulmonary embolus (85 mg/m2), and one of progressive disease (60 mg/m2). Of 50 patients who were assessable for response, there were seven responses including two of 10 with primary CNS tumors, one of 12 with malignant melanoma, one of five with non-small-cell lung carcinoma, two of two with breast carcinoma, and one of one with ovarian carcinoma. Because of its activity in ANLL and NHL and its unique toxicity spectrum, high-dose AZQ may improve the efficacy of current BMT preparative regimens without significantly increasing their nonhematopoietic toxicity.

Adolescent↗
PubMedDate not supplied

Inherited disorders of amino acid transport in relation to the kidney.

Cystinuria was first described in 1810. Since the initial description, a group of renal cellular transport deficit diseases has been characterized. The study of genetic diseases that create a specific aminoaciduria has expanded our knowledge of cellular structure, cellular transport, and intracellular concentration gradients. A review of the theories and experimental data obtained through investigations of the renal aminoacidurias are presented.

Amino Acid Metabolism, Inborn Errors↗