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PubMed1995

Cadmium-associated renal disease.

Cadmium is widely used in industry, causing exposure of workers and environmental pollution because of its persistence in the biosystems. Its very long half-life in the human organism causes its accumulation over the lifetime in liver and kidneys. Cadmium ions have a high affinity for tissue thiols, induce the synthesis of a carrier cysteine-rich polypeptide called metallothionein, and impair proteoglycan metabolism. Significant renal effects include tubular nephropathy manifested by proteinuria, amino aciduria, glucosuria, phosphaturia, and calcium wastage. Chronic sequels include decrease in the glomerular filtration rate and increased risk of kidney stone disease. Biological monitoring of cadmium absorption includes determination of urinary cadmium and of low molecular weight marker proteins, such as beta2-microglobulin or retinol binding protein, the tubular reabsorption of which is impaired before a frank proteinuria.

Animals↗
PubMed1999

Inhibition of Na-K-ATPase activity and gene expression by a myeloma light chain in proximal tubule cells.

BACKGROUND: Light chain nephrotoxicity is frequently associated with Fanconi syndrome characterized by amino-aciduria, glycosuria, phosphaturia, and bicarbonaturia. The mechanisms of these transport abnormalities are unknown. To determine the role of Na-K-ATPase, we examined the effects of a lambda-light chain on both the activity and gene expression of Na-K-ATPase in primary cultures of rat proximal tubule cells. METHODS: The lambda-light chain used here was isolated from urine of a patient with multiple myeloma and previously shown to inhibit sodium-dependent phosphate and glucose transport in proximal tubule cells. Na-K-ATPase was determined spectrophotometrically and the gene expression by Northern analysis in cells exposed to light chain. RESULTS: In cells exposed to 200 mumol/L light chain Na-K-ATPase activity was reduced significantly, up to 73%, at 2, 24, and 48 hours compared with control cells (N = 12, P < 0.001). Northern analysis showed that in cells exposed to light chain for 24 and 48 hours the message for the alpha-1 isoform of Na-K-ATPase was suppressed significantly compared with control cells. The messages for GAPDH, beta-actin, and 28 S RNA in light chain exposed cells were also depressed in comparison with control cells. This light chain also significantly inhibited thymidine incorporation by proximal tubule cells in a dose-dependent manner. CONCLUSIONS: These data suggest a general toxicity to cells by this light chain and indicate that inhibitory effects on both the activity and gene expression of Na-K-ATPase may be an important mechanism of light chain cytotoxicity on proximal tubule cells.

Animals↗
PubMed2000

Pharmacological limitation of damage to renal medulla after cold storage and transplantation by trimetazidine.

Delayed graft function remains an important complication after renal transplantation. In this study, we investigated the influence of trimetazidine (TMZ), a cytoprotective agent, on renal medullary damage after prolonged preservation and autotransplantation. Pig kidneys were cold-flushed and preserved (48 h at 4 degrees C) with two standard renal preservation solutions Euro-Collins and University of Wisconsin supplemented or not with TMZ (10(-6) M). Analysis of plasma and urine from 48-h-cold-stored and autotransplanted kidneys was performed with biochemical methods and proton NMR spectroscopy. Histological study by light and electron microscopy was performed after reperfusion (30-40 min) and on day 14. The results showed that the preservation in either Euro-Collins or University of Wisconsin solution containing TMZ improved significantly glomerular filtration rate compared with kidneys preserved without TMZ. TMZ significantly reduced renal medullary damage, evidenced by decreased excretion of trimethylamine-N-oxide, dimethylamine, dimethylglycine, and acetate in urine. Proximal tubular injury in TMZ-free groups was assessed by significantly greater Na(+) excretion, amino aciduria, and lactic aciduria than in TMZ-supplemented groups. Urinary concentrating ability was significantly improved in TMZ-preserved groups compared with TMZ-free groups. In TMZ-supplemented groups, there was also a greater excretion of citrate, which is a citric acid cycle metabolite. An extensive reduction in apical brush border of tubular cells, notably those of the proximal tubules, was noted in TMZ-free groups. This study clearly shows that TMZ has a beneficial action on in vivo renal preservation and its major impact is the vulnerable renal medulla.

Animals↗
PubMed2000

Hepatocyte nuclear factor 1, a transcription factor at the crossroads of glucose homeostasis.

Hepatocyte nuclear factor 1 (HNF1) is a transcription factor involved in the regulation of a large set of hepatic genes, including albumin, beta-fibrinogen, and alpha1-antitrypsin. HNF1 is expressed in the liver, digestive tract, pancreas, and kidney. Mice lacking HNF1 exhibit hepatic, pancreatic, and renal dysfunctions. HNF1-deficient mice fail to express the hepatic phenylalanine hydroxylase gene, giving rise to hyperphenylalaninemia. Renal proximal tubular reabsorption of glucose, phosphate, arginine, and other metabolites is affected, producing severe renal glucosuria, phosphaturia, and amino aciduria. Homozygous mutant mice also exhibit a dramatic insulin secretion defect. This dysfunction resembles that exhibited by patients with maturity-onset diabetes mellitus of the young type 3, who carry mutations in the human HNF1 gene in the heterozygous state. These data show that HNF1 is a major regulator of glucose homeostasis, regulating the expression of genes that are expressed in the liver, kidney, and pancreas.

Animals↗
PubMed1975

[Trichorrhexis congenita. Scanning electron microscopic studies on a congenital disorder of hair growth].

1. A congenital disturbance of hair growth belonging to the "trichorrhexis nodosa" group is described. Clinically, abnormal hair fragility since birth was the leading symptom. There was no detectable amino-aciduria. 2. The scanning electron microscope (SEM) reveals localized alterations of the hair shafts. These are irregularities of the cuticular pattern, partial fractures of the cortical filament bundles, and complete fractures with broom-like splintering of the hair ends. 3. There is no generally accepted definition of the symptom or the disease of "trichorrhexis nodosa". Further SEM analysis and collection of such hair anomalies is proposed. As in the case described here no "nodes" of the hair shaft were observed, it is presented as "trichorrhexis conginita".

Child, Preschool↗
PubMed2004

[Cysteine lithiasis].

Cystinuria is a common inherited amino-aciduria resulting in abnormal urinary excretion of cystine and the dibasic aminoacids, lysine, arginine and ornithine. Formation of cystine kidney stones, recurrent infections and subsequent renal failure are the main complications of the disease. Recently, the gene SLC3A1 and SLC7A9, encoding the two subunits rBAT et b0,+AT of the proximal renal transporter complex, have been identified. In this article, we report the medical history of a 30-year-old patient and discuss the recent molecular progress, the clinical evolution, and the medical treatment of the cystinuria.

Adult↗
PubMedDate not supplied

Association of Escherichia coli sepsis and galactosemia in neonates.

Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation. If the preliminary evaluation indicates galactosemia, there is high risk for E. coli sepsis and death. Strong consideration should therefore be given for early antibiotic therapy in infants with suspected galactosemia in spite of the absence of clinical signs or symptoms of sepsis.

Escherichia coli Infections↗
PubMed1991

[The Fanconi-Bickel syndrome].

This is a case of a 15-month-old child suffering from Fanconi-Bickel syndrome, characterized with Fanconi syndrome manifestations (glycosuria, amino aciduria and phosphaturia), and the build-up of glycogen in the liver in a similar manner as seen in cases of glycogenesis type Ia. Due to the presence of liver glycogenosis, the patient also has a tendency towards hypoglycemia, ketonuria, hypercholesterolemia and hypertriglyceridemia. The glycogenosis seen in the patients with the Fanconi-Bickel syndrome, does not depend on a defect in the activity of the glucose-6-phosphatase enzyme, but in fact is due to a defect in the transporter which mobilizes glucose and galactose in the liver and in the basolateral membrane of the proximal tubule of the kidney.

Biopsy, Needle↗
PubMed1975

Fanconi's syndrome in an adult. A case history.

A case of the Fanconi syndrome in an adult presenting with life-threatening hypokalaemia is described. Amino-aciduria, glycosuria, high phosphate and uric acid clearances with reduced plasma levels of these two substances, reduced urinary concentrating power and abnormal urinary potassium loss with a systemic acidosis, were the essential biochemical abnormalities. Osteomalacia was shown by a radiological bone survey.

Adult↗
PubMed1989

Reye syndrome: rate of oxidation of fatty acids in leukocytes and serum levels of lipid peroxides.

We examined the oxidation of different chain length fatty acids in the leukocytes and the quantity of lipid peroxides in the plasma of two Reye syndrome patients. We have found that the oxidation of [1-14C] octanoic acid in homogenates of leukocytes from one of the Reye syndrome patients was only 38 percent of the control, whereas oxidation of [1-14C] palmitic and [1-14C] lignoceric acid was slightly increased. The level of lipid peroxides in the serum of both of the Reye Syndrome patients was 4.42 and 3.04 times higher than the control level. These results suggest that impaired oxidation of medium chain fatty acids (octanoic acid) and higher levels of lipid peroxides may contribute to the pathogenesis of cellular toxicity in Reye Syndrome. Reye Syndrome (RS) was first described by Reye et. al. in 1963 and is now recognized as an important cause of morbidity and mortality in infants and children. The clinical course in RS consists of an antecedent viral illness with subsequent encephalopathy and hepatic dysfunction. Laboratory findings in RS include hypoglycemia, hyperammonemia, free fatty acidemia, elevated organic acids and amino aciduria. The ultrastructural findings in RS patients include changes in mitochondria, smooth endoplasmic reticulum morphology, and an increase in the number of peroxisomes. The elevation of serum free fatty acids in RS and their decrease in patients who improve clinically suggests a disturbance in fatty acid metabolism. To understand the role of free fatty acids in the pathogenesis of RS, we examined the levels of lipid peroxides in plasma and catabolism of fatty acids of different chain lengths in leukocytes from RS patients.

Child↗
PubMed1985

Hereditary pancreatitis. Presentation of an additional family.

A West German family with hereditary pancreatitis is described. Four members are definitely known to have had pancreatitis, while three additional members are suspected of having the disease. The mean age of onset of symptoms was 14 years. Known causes of secondary pancreatitis and amino aciduria were ruled out in each case. HLA-segregation was analysed on the A, B, C, and DR loci in all members of the family, but no coupling between distribution of HLA haplotypes and incidence of pancreatitis was detected.

Adult↗
PubMed1970

Hereditary nephropathy with hematuria (Alport's syndrome).

Among 82 members and four generations of a French-Canadian family, 14 cases of hereditary nephropathy (Alport's syndrome) were documented. Five additional members of the family had died, probably because of this same illness. Deafness occurred in five family members with nephropathy and in one without renal disease. Ten of 12 affected males died in uremia before they had reached the age of 40 years. One of seven affected females died following a pregnancy. In two surviving patients, special investigations failed to elicit intrinsic tubular defects such as amino-aciduria, renal tubular acidosis, hyperphosphaturia or renal glucosuria. Systemic illness such as abnormal aminoacids in serum, primary hyperoxaluria, diabetes mellitus and infections were also excluded. Immunological defects were not demonstrable and the staining of renal biopsy tissue with fluorescein-labelled anti-beta(1)c, anti-IgG and antifibrinogen was negative. Renal tissue material of early, advanced and terminal hereditary nephropathy showed both tubular and interstitial, vascular and glomerular lesions. Electronmicroscopy showed marked thickening of tubular and glomerular basement membranes, increase of mesangial tissue and fusion of foot processes but failed to demonstrate "immune deposits." It is postulated therefore that hereditary nephropathy results from an inborn error of metabolism where an as yet unidentified metabolite damages the renal tissue as well as the acoustic nerve, analogous perhaps to the action of certain drugs, e.g. nephro-ototoxic antibiotics.

Adolescent↗
PubMed1970

Ataxia-telangiectasia. (Clinical and immunological aspects).

This syndrome was defined by the authors in 1947. Earlier publications of similar disease descriptions were by Syllaba and Henner (1926), Louis-Bar (1941). The authors at present have a stock of 253 cases. The cardinal symptoms of this phakomatosis are: Cerebellar ataxia which begin in infancy and take a slowly progressive course. In the late stages free walking and standing are no longer possible. Progressive atactic speech disorders, cerebellar atrophy in the pneumoencephalogram. Slowly progressing symmetrical skin and mucosal telangiectasia in the face and especially on the conjunctivae at the age of 3 to 6 years. Relapsing sinopulmonary infections with a tendency toward the development of bronchiectases. Apraxia of eye movements. Atrophy of facial skin and premature graying of hair. Recessively hereditary disorder with a high familial manifestation. This syndrome combines the spinocerebellar degeneration, phakomatoses, and infantile dementia processes. Such other conditions as abnormity or absence of thymus, reduction in gamma globulins, amino-aciduria, autosomal-recessive inheritance suggest a genetically determined "error of metabolism".

Ataxia Telangiectasia↗
PubMed1984

[Mitochondrial myopathy associated with cytochrome oxidase deficiency].

Six patients are described in whom a deficiency of cytochrome oxidase in muscle tissue was found. Four patients suffered from the syndrome of 'floppy babies' with profound hypotonia, muscle weakness and failure to thrive. They died within the first 6 months of life. Two patients suffered from Leigh's and Alpers' syndrome, respectively. In all patients lactate level was elevated in one or more body fluids, whereas in 4 patients a generalized amino-aciduria was found. With electronmicroscopy structurally abnormal mitochondria were seen in the muscle of 5 out of the 6 patients.

Cytochrome-c Oxidase Deficiency↗
PubMed1978

Cystinosis with Fanconi's syndrome. A case report.

A 19-year-old girl suffering from the nephropathic form of cystinosis presented with the full clinical and biochemical picture of Fanconi's syndrome. Polyuria, polydipsia and photophobia associated with severe growth retardation and rickets were the main clinical features. The essential biochemical abnormalities consisted of hypophosphataemia, hypokalaemia and hypo-uricaemia together with a systemic acidosis and a reduced creatinine clearance rate. There was generalized amino-aciduria, glycosuria and bicarbonaturia. In addition, the fractional excretion of potassium, phosphate and uric acid was significantly increased. Slit-lamp examination of the cornea and histological examination of the conjuctiva, liver, bone marrow and kidney demonstrated cystine crystals.

Acidosis, Renal Tubular↗
PubMed1995

Adult-onset idiopathic phosphate diabetes. I. Chronic pseudoinflammatory back pain and osteopenia.

STUDY OBJECTIVE: to investigate clinical, laboratory test, and bone mineral density abnormalities in 19 adults with phosphate diabetes of unknown etiology diagnosed in a rheumatology department on the basis of a maximal rate for tubular reabsorption of phosphate (TmPO4/GFR) of 0.77 or less. RESULTS: there were 14 males and five females with a mean age of 36.7 years (range 20 to 68 years) at symptom onset and 43.9 years (24-70) at diagnosis. Seventeen patients (90%) had back pain and 13 (68%) had nerve root pain. The pain was nocturnal only or both nocturnal and diurnal in 14 cases (74%). Other manifestations were fatigue (n = 7, 37%), myalgia (n = 6, 32%), fracture (n = 6, 32%), renal colic (n = 4, 21%), and pseudodepression (n = 10, 53%). Laboratory test abnormalities were as follows: serum phosphate, 0.72 mmol/L (0.58-0.89); rate for tubular reabsorption of phosphate, 74% (54-84%); maximal rate for tubular reabsorption of phosphate, 0.58 (0.4-0.76); urinary calcium/urinary creatinine > 0.48 in nine patients (47%); and fractional potassium excretion > 20% in seven patients (37%). Normal values were found for serum levels of Ca++, Na++, Mg++, creatinine, cortisol, T3, T4, TSH, 25(OH)D3, and 1,25(OH)2 D3. Tests for glycosuria and amino aciduria were negative. Bone mineral density measurements showed z-scores of -2.13 (+0.9 to -4.25) at L2-L4, and -1.34 (+1.5 to -3.2) at the femoral neck. Bone histology showed osteoporosis with a mild increase in osteoid deposition. CONCLUSIONS: idiopathic adult-onset phosphate diabetes manifests as chronic back pain and nerve root pain, sometimes with fatigue and depression. Bone mineral density values are decreased and histology shows osteopenia. Differential diagnoses include spondyloarthropathy, disk disease, fibromyalgia, and depression. Determination of the maximal rate for tubular reabsorption of phosphate is the only means of establishing the diagnosis.

Adult↗
PubMed1984

Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities.

A 33-month-old boy with an inborn error of vitamin B12 metabolism characterized by methylmalonic aciduria, homocystinuria, cystathioninuria , and hypomethioninemia had poor vision and a progressive retinal pigmentary degeneration. The child had early growth retardation with microcephaly, developmental delay, and a megaloblastic anemia. The retinal lesions were first noted when he was 1 year of age and, by ophthalmoscopy and by electroretinographic testing, have progressed. Treatment with hydroxocobalamin and L-methionine improved the anemia and the biochemical abnormalities but apparently did not halt the retinal degeneration. We believe the retinopathy is a feature of this disease, particularly in patients with infantile involvement. The retinal lesion may be caused by an unidentified abnormality of sulfur amino acid metabolism.

Amino Acid Metabolism, Inborn Errors↗