CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis.

Background: X-linked nephrolithiasis, or Dent's disease, encompasses several clinical syndromes of low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and renal failure, and is associated with mutations in the CLCN5 gene encoding a kidney-specific voltage-gated chloride channel. Some patients from Europe have rickets, and all symptomatic patients confirmed by mutation analysis have been male.

Methods: We analyzed the CLCN5 DNA sequence in six new families with this disease.

Renal cell carcinoma developing in the pediatric recipient of an adult cadaveric donor kidney.

Renal cell carcinoma is an uncommon renal tumor in children, comprising between 1.8% and 6.3% of all malignant renal tumors of childhood (whereas renal cell carcinoma is the commonest renal tumor in adults).

Renal function 17 to 23 years after chelation therapy for childhood plumbism.

An elegant retrospective description of an epidemic of chronic renal failure occurring in patients with histories of untreated childhood lead poisoning in Queensland, Australia established beyond reasonable doubt the existence of lead nephropathy. However, a retrospective uncontrolled report from Boston in 1963 refuted the claim that there are serious renal consequences of untreated childhood lead poisoning. We conducted a controlled prospective, longitudinal study to examine the effects of childhood lead poisoning on renal function 17 to 23 years after chelation therapy.

Skeletal disorders in a pediatric renal transplant population.

Relatively little is known about the incidence of musculoskeletal disorders in patients with chronic renal failure, the conditions that give rise to particular types of deformities, and indications for operative management. Two selected patient pools were evaluated for the presence of disorders commonly seen in these patients: bony deformity, epiphysiolysis, and osteonecrosis. Relationships were noted between the occurrence of these abnormalities and age at diagnosis of renal failure, the patient's age at the appearance of the disorder, and age at time of renal transplantation.

Height and weight following lead poisoning in childhood.

The effect of lead on growth was examined in 104 lead-poisoned subjects (Pb-B [blood lead concentration], 4.82 to 22.73 mumol/L) and 27 sib-controls (Pb-B, 0.

Acute renal vein thrombosis: successful treatment with intraarterial urokinase.

When acute renal vein thrombosis is associated with renal failure, aggressive therapy to eliminate the venous obstruction is indicated. There are reports of successful treatment of this condition with thrombolytic agents administered systemically or directly into the renal vein. Renal arterial administration of urokinase was used successfully to treat acute renal vein thrombosis associated with renal failure in a 9 1/2-year-old child.

Pediatric phase I trial of carboplatin: a Childrens Cancer Study Group report.

Carboplatin is one of a series of cisplatin analogs now undergoing clinical investigation. Phase I and II trials in adults demonstrate activity in a number of human cancers and less toxicity than might be expected with the parent compound. This phase I trial was undertaken to establish the maximum tolerated dose and the recommended phase II dose in children treated by a 1-hour iv infusion every 4 weeks.

Effect of aspirin on experimental diabetic nephropathy.

The decline in glomerular filtration rate (GFR) in long-term diabetes in humans and animals in preceded by a period of hyperfiltration that may be responsible for it. The mediators of the increase in glomerular filtration are unknown, but recent studies suggest a prominent role for prostaglandins. To test the hypothesis that prostaglandins mediate early hyperfiltration and contribute to the progression of diabetic nephropathy, we examined the effects of long-term aspirin (ASA) treatment on whole kidney GFR and renal prostaglandin E2 (PGE2) synthesis in control and diabetic rats 8 days and 16 weeks after streptozocin administration.

Continuous ambulatory peritoneal dialysis: the pediatric experience.

Continuous ambulatory peritoneal dialysis has become a highly acclaimed method of maintenance therapy in the management of end stage renal disease in childhood. This type of dialysis affords freedom and comfort, and lessens dependence. Furthermore, the over-all reduction in hospital-related cost of this therapy currently has made continuous ambulatory peritoneal dialysis the recommended procedure of choice at our institution.

Cisplatin nephrotoxicity: insights into mechanism.

Cis-dichlorodiammine platinum (II), or cisplatin, is currently among the most widely used agents in the chemotherapy of cancer. The chief limit to its greater efficacy is its nephrotoxicity. Acute and chronic nephrotoxicity of cisplatin occurs in man and animals especially after repeated administration.

Family adjustment to pediatric ambulatory dialysis.

Continuous ambulatory peritoneal dialysis has recently been a successful medical treatment for children with end-stage renal disease. The psychosocial issues for families and patients are considered within the context of the child's developmental stage (infants and toddlers, school age, and adolescence). The parent's conflicting duties as both a provider of medical care and a parent often lead to disturbances in family relationships.

The role of prostaglandins in early polyuria induced by cisplatin in the rat.

To assess a possible role of prostaglandins in the early phase of cisplatin-induced abnormalities in renal concentrating ability, three groups of rats were studied. In a first group we measured prostaglandin production from renal medullary microsomes isolated from rats sacrificed at different time periods after cisplatin, 5 mg/kg alone (PB/CP) or cisplatin plus aspirin, 300 mg/kg p.o.

Cisplatin nephrotoxicity.

Cis-dichlorodiammine platinum (II), or cisplatin, has emerged as a principal chemotherapeutic agent in the treatment of otherwise resistant solid tumors and is currently among the most widely used agents in the chemotherapy of cancer. The chief limit to its greater efficacy is its nephrotoxicity, which has made it necessary both to lower its dosage and actively hydrate patients to reduce it. The vulnerability of the kidney to cisplatin is almost certainly related to its primary role in the excretion of cisplatin.

Taste perception of children with chronic renal failure.

Taste sensitivity and preference in the suprathreshold ranges were compared for 20 pediatric patients with renal disease and 15 children with normal renal function. Nine patients had chronic renal insufficiency, and 11 had endstage renal disease. Subjects were also evaluated for various dietary, anthropometric, and biochemical parameters.

Slow, natural reduction in blood lead level after chelation therapy for lead poisoning in childhood.

Lead poisoning is treated with chelating agents. We report the natural decline of blood lead (Pb-B) concentration after treatment(s) (1967 to 1972) in 74 patients whose maximal Pb-B level ranged from 100 to 471 micrograms/dL (4.83 to 22.

Ethylene oxide (ETO) as a possible cause of an allergic reaction during peritoneal dialysis and immunologic detection of ETO from dialysis tubing.

An infant with end-stage renal disease requiring continuous ambulatory peritoneal dialysis (CAPD) had a cutaneous eruption with eosinophilia. This reaction was not associated with any drug administration. An analysis for antibodies against ethylene oxide-human serum albumin (ETO-HSA) was conducted because IgE antibodies have been correlated with allergic reactions during hemodialysis.

Preliminary observation of impaired water excretion in treated status asthmaticus.

Patients in status asthmaticus often have elevated plasma antidiuretic hormone levels. To determine if children in status asthmaticus have impaired water excretion and an increased risk of developing significant hyponatremia when given a fluid challenge, five consecutive patients who showed moderate asthmatic symptoms after taking two doses of epinephrine hydrochloride were given a fluid challenge (20 mL/kg of 5% dextrose in 0.2% normal saline solution given intravenously over 30 minutes followed by maintenance fluids [1,500 mL/sq m/24 hr] for 50 minutes).

Renal function 9 to 17 years after childhood lead poisoning.

Renal function was studied in 74 subjects who, between 1966 and 1972 (ages 1 to 6 years) had had blood lead levels (PbB) greater than or equal to 100 micrograms/dl (range 100 to 471 micrograms/dl, median 142 micrograms/dl) and in 21 sibling controls. PbB measured in 1983 in study subjects remained significantly higher than in sibling controls (mean +/- 1 SD 14.5 +/- 4.

Renal prostaglandin E2 synthesis and degradation in the developing rat.

Postnatal development of glomerular filtration rate (GFR) and renal blood flow is associated with a fall in renal vascular resistance that may be mediated by vasoactive substances. We examined differences in the regulation of one such substance, prostaglandin E2 (PGE2). The present studies examined renal cortical and medullary PGE2 synthesis and degradation in rats aged 20 days (30.

Reversible nephrotoxic reactions to a combined 2,3-dimercapto-1-propanol and calcium disodium ethylenediaminetetraacetic acid regimen in asymptomatic children with elevated blood lead levels.

One hundred thirty children aged 1 to 8 years with blood lead levels greater than 50 micrograms/100 ml of whole blood (WB) and free erythrocyte protoporphyrin (FEP) concentration greater than 250 micrograms/100 ml of WB received 207 chelation treatments for plumbism. All chelation treatments consisted of CaNa2 ethylenediaminetetraacetic acid (EDTA) 25 mg/kg per dose every 12 hours and 2,3-dimercapto-1-propanol (BAL) 3 mg/kg per dose every four hours for five days. Seventeen children demonstrated transient doubling of pre-chelation treatment serum creatinine (less than or equal to 2.

Observations on persistently dilated ureter after posterior urethral valve ablation.

The persistent ureteral dilatation frequently seen months or even years after posterior urethral valve ablation, continues to present a dilemma to the urologist. We have classified these dilated ureters into 3 types: (I) unobstructed with either an empty or filling bladder, (II) unobstructed with an empty bladder but obstructed with a filling bladder, and (III) obstructed with either an empty or filling bladder. The majority of ureters with persistent dilatation were found to be of the type II variety where appropriate treatment is not obvious.