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PubMed1997

Absence of hemolysis after a kidney transplant in an E+ recipient from a donor with anti-E.

A 12-year-old Caucasian male with cystinosis received a kidney from his mother, whose red blood cells typed as group O, D+, E-. Her serum contained an anti-E with an IgG1 titer of 16 (score 31). The recipient's type was group O, D+, E+, with a negative antibody screen in the pretransplant period. The recipient and donor Rh phenotypes were most likely DCcEe and Dccee, respectively. Because the recipient's mother had no transfusion history, she was probably immunized by the fetal red blood cells of her one pregnancy (the recipient). The kidney had been immediately perfused with saline after removal from the donor. No acute or delayed hemolysis was observed clinically or in laboratory tests performed immediately after the transplant and at 7, 15, and 30 days after the transplant. Antibody screens were still negative at 6 months. In this case, anti-E was not present in the transplanted kidney in sufficient concentration to cause hemolysis of the recipient's red blood cells and transplanted lymphocytes did not synthesize sufficient anti-E to be detectable or to cause hemolysis.

Journal Article↗

PubMed1991

[Clinical evaluation of 70 pediatric renal transplants after 10 to 17 years].

Among 149 kidneys transplanted in 141 children and teenagers aged 4 1/2 to 20 years, from November 1972 through December 1979, 70 (47%) were still functioning after ten years (67/145 cadaver donor grafts and 3/4 living related donor grafts). Medical and social status at the last follow-up visit (10 to 16 1/2 years after transplantation; m = 12 years) was analyzed. Patients were divided into five groups on the basis of glomerular filtration rate (GFR; ml/min/1.73 m2) and blood pressure (BP): 1) GFR greater than 80 ml and normal BP: 23 patients (33%); 2) GFR in the 60-80 ml range and/or high BP: 24 patients (34%/3) GFR in the 40-60 range: 6 patients; 4) GFR in the 15-40 range: 7 patients; and 5) hemodialysis restarted 10 1/2 to 13 years after transplantation. Mean adult stature was 155.7 +/- 10.4 cm in males and 149.8 +/- 10 cm in females. Osteoporosis was found in 88% of patients who underwent bone density quantitation. Twenty-four per cent of patients had aseptic osteonecrosis with variable degrees of impairment as a result. Chronic HBsAg carrier status was found in 37% of patients and was accompanied with persistent cytolysis in half the cases. Only one malignancy was seen (carcinoma of the urinary bladder in a child under cyclophosphamide). Six deaths were recorded between 10 and 13 years after transplantation; causes included septicemia (2 cases), cancer (1 case), hepatitis B (1 case), cerebral cystinosis (1 case), and unexplained sudden death (1 case).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed1990

Prevalence of hereditary renal disease.

Little information is available concerning hereditary renal disease in the Irish population. We studied the prevalence and types of hereditary renal disease that lead to end stage renal failure by looking at the underlying hereditary disease in our dialysis populations and in all patients transplanted at the national unit. Twenty eight (15.7%) of 178 dialysis patients had hereditary renal disease with a mean age of 31 years (range nine to 65), and a male to female ratio of 1.54:1. Eighty-nine of 842 patients (10.3%) with renal transplants had hereditary renal disease with a male to female ratio of 1.63:1. The commonest entity was autosomal dominant polycystic kidney disease (68% in dialysis patients, 64% in transplants), and the next most frequent was Alport's syndrome (21.4%, 16.9%). Nephronophthisis was the third most common problem (10.7%, 10.1%) followed by hereditary non-Alport's nephritis, Fabry's disease, cystinosis and familial interstitial nephritis. The high prevalence of hereditary renal disease among the dialysis and renal transplant population emphasises the need for proper registration of the nature of renal disease in this group, and for a comprehensive genetic counselling service in this country.

Adolescent↗

PubMed1989

Electrophoretic examination of proteinuria in Lowe's syndrome and other causes of renal tubular Fanconi syndrome.

Urine samples from 26 patients with five different causes of renal tubular Fanconi syndrome were examined by zone electrophoresis on agarose gel and immunofixation. The tubular disorders associated with Lowe's syndrome, cystinosis, and idiopathic Fanconi syndrome exhibited urine protein electrophoretic characteristics that differentiated them from normal and from each other. In particular, Lowe's syndrome urine exhibited four discrete bands in the gamma globulin zone. Electrophoresis of urinary proteins may be useful in distinguishing among the different metabolic disorders causing renal tubular Fanconi syndrome.

Adolescent↗

PubMed1987

Polycythemia in pediatric renal transplantation.

Post-transplant polycythemia is not uncommon in adult patients and is usually transient, responding to phlebotomy. Five pediatric patients developed erythrocytosis post-transplantation. Three patients had end-stage renal disease due to cystinosis, one had reflux glomerulopathy and one had focal glomerular sclerosis. The probable causes of the polycythemia were graft arterial stenosis in three patients. In one, polycythemia occurred with nephrosis. Polycythemia with hypertension may indicate the presence of arterial stenosis in children post-transplantation.

Adolescent↗

PubMed1978

Enzymuria as a marker of renal injury and disease: studies of N-acetyl-beta-glucosaminidase in the general population and in patients with renal disease.

Urinary excretion of N-acetyl-beta-D-glucosaminidase (NAG) was shown to be reproducible in random urine specimens when expressed as the ratio of NAG to milligrams of urinary creatinine. The enzyme/creatinine ratio in 815 healthy people was relatively constant throughout childhood and adult life except for the first two years after birth and in individuals 56 years or greater. High ratios in the young children may be explained by low urinary creatinine excretion probably related to small body mass and reduced glomerular filtration rate at this age. The ratio was increased in adult uremic patients and children and adults with a variety of neurologic and obstructive lesions of the voiding mechanism. The presence of bacteriuria did not appear to increase the ratio. Significant enzymuria (greater than 2 SD above the mean for age and sex) was detected in 38 of 81 children with well-characterized renal disease. Among patients with predominantly glomerular disorders there was a close relationship between activity of the disease and enzymuria. In patients with tubulointerstitial disease enzymuria was frequent even in the absence of proteinuria. One of the highest enzyme/creatinine ratios was observed in a child with cystinosis. These studies indicate that NAG enzymuria is a sensitive indicator of activity of renal disease and may prove to be a suitable screening test for significant renal disease or injury in childhood.

Acetylglucosaminidase↗

PubMed1986

Peritoneal dialysis in infants and children.

Pediatric renal failure patients can be restored to health with peritoneal dialysis more easily, more comfortably, and more safely than with hemodialysis. During the past 3.5 years, we have treated 22 children with either acute (less than 30 days) or chronic (greater than 30 days) peritoneal dialysis (PD) at Henrietta Egleston Hospital for Children. They ranged in age from 2 weeks to 15 1/6 years, mean 5.2 years. The indications for acute dialysis were renal failure following cardiac surgery (4); hemolytic-uremic syndrome (4); and renal failure associated with bromide intoxication (1), congenital urethral stricture (1), or bronchopulmonary dysplasia (1). Chronic dialysis was utilized for end-stage renal disease caused by glomerulonephritis (5), chronic infection (2), hemolytic-uremic syndrome (1), cystinosis (1), congenital renal artery stenosis (1), and unknown etiology (1). Thirty-four adult or pediatric Tenckhoff catheters were utilized to deliver PD for from 6 to 551 days (18 months). Pediatric Tenckhoff catheters must be pre-measured in order to have the Dacron cuffs glued to the appropriate position on the catheter (7-12 cm from the end) to fit the child. There were seven catheter-related infections in four patients; three required catheter revision and four were treated medically. There were eight catheter-related mechanical problems, all of which required re-operation. All of those on chronic PD and seven of those on acute PD survived for an overall survival of 82 per cent. All surviving patients have been restored to health either by recovery of renal function (6 patients), renal transplantation (8 patients), or maintenance of chronic ambulatory peritoneal dialysis (4 patients).

Acute Kidney Injury↗

PubMedDate not supplied

Renal handling of citrate in children with various kidney disorders.

Citrate (CIT) excretion was measured in 24 h urine of children with various kidney disorders and controls. It was normal in urinary tract infection, idiopathic urolithiasis, and idiopathic hypercalciuria in the absence of renal dysfunction, but reduced in acute glomerulonephritis, distal renal tubular acidosis, and chronic renal failure. Increased citraturia was observed in cystinosis and in idiopathic de Toni-Debré-Fanconi syndrome. Renal handling of CIT was studied in 45 children with various chronic kidney disorders under standard inulin clearance conditions. CIT clearance correlated well with GFR above 50 ml/min/1.73 m2. At lower levels, percent tubular reabsorption of CIT decreased rapidly, reaching levels between 17% and 41% at GFR less than 10 ml/min/1.73 m2; this disproportionate fall might be related to reduced renal CIT utilization at a relatively early stage of renal insufficiency. During acid loading tests, citraturia was lowered, with a decrease of both urinary pH and plasma bicarbonate in tubular disorders and in controls. The lowest CIT excretion was measured in incomplete renal tubular acidosis with magnesium wasting. The findings are discussed in view of recent physiological data on renal metabolism of CIT.

Adolescent↗

PubMed1966

Ocular correlates of inborn metabolic defects.

The eye provides unique opportunities for the detection, during life, of deposits of storage substances and other characteristic changes resulting from inborn metabolic defects. The cornea shows the macromolecular polysaccharides of Hurler's disease, the cystine crystals in cystinosis, and the copper deposits of Wilson's disease. The sclera shows characteristic pigmentation in alcaptonuria. The iris shows the lack of pigmentation in various types of albinism. The lens is cataractous in galactosemia and dislocated in homocystinuria. The vitreous is opacified in familial amyloidosis. The retina shows different and characteristic deposits with the diseases of Tay-Sachs, Niemann-Pick, metachromatic leukodystrophy, and Farber's lipogranulomatosis. The retinal veins show pronounced tortuosity with Fabry's disease. There is some evidence that optic neuropathy occurs in glucose-6-phosphate dehydrogenase deficiency. Curiously, few abnormalities in the eye have been described in subjects with the glycogen storage diseases.

Eye Manifestations↗

PubMed1984

Prenatal diagnosis of lysosomal storage diseases. Review of experience in 145 patient referrals over a period of eight years.

Over the past eight years, 145 patients from Australia and New Zealand were referred to the Department of Chemical Pathology, The Adelaide Children's Hospital, for the prenatal assessment of a variety of lysosomal storage diseases. This group comprised 65 patients at risk for a glycosphingolipidosis, 50 for a mucopolysaccharidosis, five for mucolipidosis, 15 for glycogen storage disease, and 10 for cystinosis. In three cases, amniotic cells failed to establish in culture; in one of these cases, cell-free amniotic fluid was used to make the prenatal diagnosis; the fetus spontaneously aborted in another; only in one case could the prenatal assessment not be completed. Of the 143 cases of successful assessment, 40 fetuses (28%) were predicted to be homozygous affected by the disease for which they were at risk, and 38 pregnancies were subsequently terminated. Follow-up biochemical tests in the affected fetuses and in the newborn children were performed in 82% of cases and confirmed the prenatal assessment to have been correct in all cases. There were no known false positive or false negative diagnoses. It is concluded that the prenatal diagnosis of a range of lysosomal storage diseases can be performed accurately and reliably, provided that cultured amniotic cells are used for enzymatic assay and that a strict protocol, related to each individual prenatal assessment, is followed.

Amniocentesis↗

PubMed1983

Proton-translocating ATPase and lysosomal cystine transport.

A proton-translocating ATPase was identified in highly purified lysosomes from Epstein-Barr virus-transformed human lymphoblasts. Activity of this ATPase caused acidification of highly purified, fluorescein isothiocyanate dextran-loaded lysosomes and correlated with the ATP-dependent efflux of lysosomal cystine. The lysosomal ATPase was distinct from mitochondrial F1-ATPase in its responses to a variety of inhibitors. Although ATP-dependent lysosomal cystine efflux is not demonstrable in cultured lymphoblasts from individuals with nephropathic cystinosis, ATPase activity and acidification in lysosomes from these cells is comparable to that in noncystinotic lysosomes. ATPase activity in lymphoblasts from normal individuals was 543 +/- 79 nmol/mg/min while in lymphoblasts from cystinotic individuals this activity was 541 +/- 25 nmol/mg/min. ATP-dependent acidification of lysosomes from normals was -0.5 +/- 0.1 pH units compared to -0.5 +/- 0.1 pH units in cystinotic lysosomes. Activity of the lysosomal proton-translocating ATPase is a necessary, but not sufficient, condition for lysosomal cystine efflux.

Animals↗

PubMed1978

Chronic renal failure in children.

Seventy-seven children with chronic renal failure were examined at one hospital in the province of Quebec between 1970 and 1975; this represents an incidence of 2.5 per million population per year. The entities responsible for chronic renal failure were urinary tract malformation (in 36%), chronic glomerulonephritis (in 22%), congenital renal parenchymal malformation (in 21%) and hereditary nephropathy (in 13%). The evolution of chronic renal failure in children with either vesicoureteral reflux or a posterior urethral valve seemed to be related more to the initial severity of the disease than to the age at the time of diagnosis. Hence any screening program designed to detect kidney disease in schoolchildren would not prevent chronic renal failure, since at that age renal parenchymal damage seems to be irreversible. The manner in which chronic glomerulonephritis evolved depended on whether the nephrotic syndrome was present and on the type of histologic lesion. Children with congenital renal hypoplasia or dysplasia often presented with seizures due to hypertensive encephalopathy without obvious symptoms or signs of pre-existing renal disease. Among patients with familial nephropathy many of those with cystinosis underwent successful renal transplantation early in life.

Adolescent↗

PubMed1983

[Clinical tolerance of hemodialysis sessions in children. Comparison of bicarbonate and acetate baths].

Hemodialysis tolerance was studied in 3 children during periods of respectively 6, 7 and 9 months comparing bicarbonate (B) versus acetate (A) with equivalent number of sessions. Parameters used for tolerance in these three cases were: hypotensive bouts, solutes perfused during sessions, mean alimentary intake, vomiting, headache, abdominal pain and benzodiazepine prescriptions, taking account of ultrafiltration and dry weight variations during this periods. Results with bicarbonate are following: Obs. n degrees 1 (11 year old female, cystinosis, A: 38 sessions, B: 44 sessions): significant improvement of hypotension episodes and reduction of solutes perfused (p less than 0,05), of vomiting (p less than 0,001), and increase of mean alimentary intake (p less than 0,001). Obs. n degrees 2 (11 year old male, glomerular nephropathy, A: 25 sessions, B: 27 sessions): non significant improvement of hypotension episodes, but improvement for mean alimentary intake (p less than 0,01). Obs. n degrees 3 (4 year old male, uropathy with renal hypoplasia): no significant improvement, but for this child A hemodialysis tolerance was better than for both others. B hemodialysis seems a good alternative for children with A intolerance.

Acetates↗

PubMed1978

Progression of renal insufficiency in pediatric patients: estimation from serum creatinine.

Progression of renal insufficiency was estimated from serial serum creatinine (SCr) determinations in 45 pediatric patients with SCr greater than 2 mg/dl. This was done by plotting the logarithm of SCr (log SCr) versus time or the reciprocal (l/SCr) versus time. Calculation of data by linear regression analysis was restricted to 38 of these patients where at least 4 sequential SCr determinations were available. In 24 patients, a similar straight line relationship was observed on both plots. The semilog plot appeared more suitable in 2, and the reciprocal plot in 7 instances. In 5 patients progression of renal insufficiency was clearly non-linear. In the majority (33 of 38) of pediatric patients, loss of renal function occurred thus at an exponential rate (log SCr) or at a constant rate (l/SCr). The mean rate of progression of chronic renal insufficiency, expressed as SCr doubling time on the semilog plot, was 2.4 months in 10 patients with acquired glomerular diseases, 17 months in 3 patients with cystinosis, 27.7 months in 5 patients with renal hypoplasia or dysplasia, and 21.8 months in 13 patients with urinary tract abnormalities.

Adolescent↗

PubMed1981

[Metabolic disorders and corneal changes (author's transl)].

The following inborn errors of metabolism may show corneal changes: A. Inborn errors of metabolism affecting the corneal epithelium: (1) familial dysautonomia, (2) tyrosinaemia type II, (3) Fabry's glycolipidosis. B. Inborn errors of metabolism affecting the corneal stroma: I. Localized amyloidosis (lattice dystrophy of the cornea), II. Defects in carbohydrate metabolism: (1) localized mucopolysaccharidosis (macular dystrophy of the cornea), (2) systemic mucopolysaccharides, (3) glycogen storage disease. III. Defects in lipid metabolism: (1) localized from (Schnyder's crystalline dystrophy), (2) systemic forms (hyperlipoproteinaemia, hypolipoproteinaemia, Lecithin-cholesterol acyl transferase deficiency, Wolman's disease, Gaucher's disease). IV. Combined defects in lipid and carbohydrate metabolism (mucolipidoses). V. Other inherited metabolic disorders: (1) aminoacidopathies (cystinosis, Wilson's disease, ochronosis, Chediak-Higashi syndrome), (2) hemochromatosis.

Amino Acid Metabolism, Inborn Errors↗

PubMed1978

The specific proteinuria of cancer patients.

UNLABELLED: Most patients with disseminated cancer have proteinuria. Twenty-four hour urine protein averaged less than 80 mg in normals; 223 mg in patients with acute myelocytic leukemia; 177 mg in subjects with stage IV Hodgkin's; 215, 229, 233, and 280 mg in patients with metastatic cancer of colon, breast, ovary, and pancreas respectively. We recently purified the novel glycoprotein EDC1 (mol wt 27,000) from the urine of patients with several types of cancer and found it to be a fragment of plasma inter-alpha-trypsin inhibitor (IATI) (mol wt 170,000). Both EDC1 and IATI are antiproteolytic. By radial immunodiffusion and radioimmunoassay of the 41 recognized plasma proteins and of EDC1, we have now analyzed the composition of urine protein in: (i) five nephrotics ("glomerular proteinuria"), (ii) four patients with cystinosis and four with hereditary renal tubular acidosis ("tubular proteinuria"), and (iii) 26 proteinuria (200-800 mg/day) patients with the six types of disseminated cancer listed above. In (i), (ii) and (iii) the 41 plasma proteins accounted for 100%, greater than 95%, and 33-60% of the urine protein, respectively, while EDC1 accounted for less than 1%, less than 1%, and 40-63% respectively. In normals, (i), (ii) and (iii), plasma EDC1 averaged less than 1, less than 1, less than 1 and 65 micrograms/ml respectively. Renal clearance of EDC1 in (iii) averaged 3% of creatinine clearance. In three cancer patients with EDC1-proteinuria, postmortem renal histology was normal. CONCLUSION: most types of cancer cell interact with plasma IATI to generate plasma EDC1 which is rapidly filtered by the glomeruli, with a resultant "overflow" or "prerenal" proteinuria which is unique to disseminated neoplastic disease.

Adolescent↗

PubMed1993

Flecked retina disorders.

This survey describes a number of fundus conditions characterized by flecks in the retina. The term "flecked retina" was introduced by Krill and Klien to describe fundus conditions characterized by multiple yellowish-white lesions of various size and configuration, without vascular or optic nerve abnormalities. Originally this group consisted of four diseases: fundus albipunctatus, fundus flavimaculatus, familial drusen and fleck retina of Kandori. However, far more diseases correspond to the rather vague definition, including primary hereditary ocular diseases such as retinitis punctata albescens or Bietti's crystalline dystrophy, neuro-ophthalmologic syndromes such as Kjellin's syndrome, secundary retinal flecks due to metabolic disorders such as Alport's syndrome, cystinosis, oxalosis or membrano-proliferative glomerulonephritis, iatrogenic retinopathy due to Tamoxifen or Canthaxanthin and carential diseases such as vitamin A deficiency. The precise diagnosis is not only based on the close observation of the fundus, but demands often extensive psychophysical examination of the patient and sometimes of his family.

Corneal Dystrophies, Hereditary↗

PubMed1994

Intracellular distribution of cystine in cystine-loaded proximal tubules.

Cellular cystine loading with cystine dimethyl ester has been shown to inhibit transport in proximal convoluted tubules perfused in vitro and decrease the rate of oxygen consumption in suspensions of proximal tubules. The present study was designed to examine the intracellular distribution of cystine in this model of the Fanconi syndrome of cystinosis and to determine whether cystine or its degradation product, cysteine, is the cytotoxic agent in cystine-loaded rabbit proximal tubules. Tubules were incubated with 2 mmol/L cystine dimethyl ester for 10 min at 37 degrees C and subjected to cellular fractionation. The intralysosomal cystine content (272 +/- 125 nmol/mg protein) was significantly higher than that measured in the nucleus (8.7 +/- 2.0 nmol/mg protein) and cytosol (9.8 +/- 4.0 nmol/mg protein (p < 0.05). Electron micrographs of tubules loaded with cystine depicted large swollen lysosomes. To determine whether cystine or its breakdown product, cysteine, was the cytotoxic agent in tubules incubated with cystine dimethyl ester, the intracellular cystine and cysteine contents were measured and found to be 86.5 +/- 14.8 and 5.7 +/- 1.7 nmol/mg protein, respectively. These tubules had a 50% decrease in the rate of O2 consumption. To examine whether the increased level of intracellular cysteine played a role in this decrease in O2 consumption, we loaded tubules with 2 mmol/L cysteine methyl ester for 10 min. Despite an intracellular cysteine concentration of 59.6 +/- 5.8 nmol/mg protein, cysteine-loaded tubules had a rate of O2 consumption equal to that measured in control tubules. Thus, intracellular cystine loading significantly increases intralysosomal cystine content.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗