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Biomedical subjects

M Broyer

Publications and source records attributed to M Broyer.

At least 55 records · Page 3Linked to original sources
PubMed1998

Effects of growth hormone in short children after renal transplantation. French Society of Pediatric Nephrology.

From 1991 to 1993, 90 children having received a kidney graft with a post-transplantation period of at least 12 months were included in a prospective study carried out in 18 French pediatric centers. After informed consent and randomization, children received recombinant human growth hormone (rhGH) (Genotonorm, Pharmacia peptide hormones) 30 U/m2 per week, either immediately on enrollment, for the treated group, or after 1 year of follow-up for the group serving as a control. After 1 year both groups were treated and we analyzed data during the subsequent years. Eighty-five children completed the 1-year study. Growth velocity was significantly increased by rhGH: 7.7 cm with a gain of +0.3 standard deviation score in the treated group versus 4.6 cm in the control group (P<0.0001) during the 1st year. Four factors predicted response to therapy: growth velocity prior to GH therapy, glomerular filtration rate (GFR) at the start, mode of corticosteroid administration, and degree of insulin resistance. After 1 year we observed a moderate, significant decrease in GFR in both groups. Biopsy-proven acute rejection episodes were not significantly more frequent during the 1st year in the group of patients who received rhGH: 9 in 44 versus 4 in 46 patients. The patients who rejected did not differ in terms of age, renal function at the start, and type of immunosuppression, but history of rejection before GH treatment was discriminatory: 6 of 17 children with two or more episodes had a new rejection versus 1 of 22 who had no or only one episode (P=0.01). Glucose tolerance was not modified after 1 year of GH therapy. During the subsequent years of treatment a decrease in growth velocity was noted: 5.9 cm at 2 years, 5.5 at 3 years, and 5.2 cm at 4 years. In conclusion, GH is efficient for improving growth velocity in short transplanted children, inducing clear-cut but limited catch-up growth. The risk of rejection was shown only in patients with a prior history of more than one rejection episode.

Adolescent↗
PubMed1998

Renal transplantation in children with augmentation cystoplasty: long-term results.

PURPOSE: We assessed the long-term results of renal transplantation in children with augmentation cystoplasty. MATERIALS AND METHODS: We retrospectively reviewed the complications and followup in 14 pediatric renal transplant recipients with augmentation cystoplasty. The etiology of bladder dysfunction included posterior urethral valves in 10 cases, neurogenic bladder in 3 and vesicoureteral reflux in 1. All transplants were cadaver donor kidneys. Mean patient age at transplantation was 12.1 years (range 5 to 18). Augmentation cystoplasty was performed before and after transplantation in 10 and 4 cases, respectively. Detubularized ileum was used in 5 cases, tubular ileum in 4, tubular sigmoid in 4 and stomach in 1. RESULTS: Of the 14 transplanted kidneys 10 (71%) were functioning at a mean followup of 80 months (range 12 to 151). Serum creatinine was less than 1.4 mg./dl. in 9 patients. Four grafts were lost to chronic rejection. The 5 and 10-year graft survival rates were 84 and 73%, respectively. Two patients with a functioning kidney died of causes unrelated to augmentation cystoplasty. Complications included symptomatic urinary infections in 4 patients, hyperchloremic metabolic acidosis in 2, nephrolithiasis in the allograft in 2 and the hematuria-dysuria syndrome in 1. All patients were continent. CONCLUSIONS: Augmentation cystoplasty is a safe and effective method of restoring lower urinary tract function in the pediatric renal transplant population with a small noncompliant bladder.

Adolescent↗
PubMed1998

[What's new in pediatric nephrology?].

Advances in pediatric nephrology has been mainly characterized during the last years by a burst of knowledge in the area of genetic renal diseases: 1/almost complete understanding of Alport syndrome related to mutations of COL4A5 or COL4A3/A4 genes of collagene; 2/the mapping and cloning of the nephronophthisis gene which is deleted in 75% of cases; 3/the mapping and cloning of the cystinosis gene coding for a protein of the lysosomal membrane; 4/the mapping and cloning of the Finnish-type congenital nephrotic syndrome gene; 5/the linkage to the SNR 1 gene on chromosome 1 of a large number of familial corticoresistant nephrotic syndromes, and the disclosure of mutations of the WT1 gene in diffuse mesangial sclerosis and in Frazier syndrome. The understanding of Bartter syndrome has been also enlightened by the discovery of mutations in several ionic channels located in the distal tubule. It has been also shown that a corticoresistant nephrotic syndrome or a chronic tubular interstitial nephropathy are possible phenotypes for mitochondrial cytopathies. In the area of therapeutics, recombinant growth hormone was shown to improve statural growth of children with chronic renal failure; in addition, renal transplantation benefits from new immunosuppressants as tacrolimus and mycophenolate mofetil.

Child↗
PubMed1998

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transport of cystine, is the most common inherited cause of renal Fanconi syndrome. The cystinosis gene has been mapped to chromosome 17p13. We found that the locus D17S829 was homozygously deleted in 23 out of 70 patients, and identified a novel gene, CTNS, which mapped to the deletion interval. CTNS encodes an integral membrane protein, cystinosin, with features of a lysosomal membrane protein. Eleven different mutations, all predicted to cause loss of function of the protein, were found to segregate with the disorder.

Amino Acid Sequence↗
PubMed1998

Crystalluria: a clinically useful investigation in children with primary hyperoxaluria post-transplantation.

Primary hyperoxaluria type I (PH I) is a congenital error of metabolism that can be manifested by an increased oxalate production, and ultimately result in kidney failure. After a combined liver/kidney transplantation, children with PH I have persistent excretion of oxalate that causes crystal formation in the urinary tract, and could result in systemic oxalosis and eventual graft failure. We speculated that crystalluria may be predictive of this nephrolithogenic tendency and thus investigated the effect of an intensive therapeutic strategy to prevent crystal formation in 13 children at our hospital. Oxalate crystal volume (OCV) measurements were performed at regular intervals for 36 months, and compared with urine supersaturation measurements. We found that crystalluria with the OCV measurement is non-invasive, easily performed, and gives feedback on the efficacy of PH I therapy within one hour. Further study is needed to determine whether this method is a better predictor of nephrocalcinosis than is supersaturation alone.

Adolescent↗
PubMed1998

Treatment with recombinant human growth hormone in short children with nephropathic cystinosis: no evidence for increased deterioration rate of renal function. The European Study Group on Growth Hormone Treatment in Short Children with Nephropathic Cystinosis.

To evaluate the effect of long-term treatment with recombinant human GH (rhGH) on renal function in short children with nephropathic cystinosis with and without concomitant cysteamine treatment, 36 growth-retarded children with nephropathic cystinosis (age 7.3+/-2.7 y; creatinine clearance [C(CR)] 50+/-27 mL (min x 1.73 m2)(-1) were treated with 1 IU rhGH/kg/wk for up to 5 y. The rise in serum creatinine before and during rhGH treatment was compared with that in a historical control group of cystinotic patients. The effect of concomitant cysteamine treatment on the evolution of renal function before and after the start of rhGH was evaluated separately in patients without (group A) and with cysteamine treatment (group B). The decline of C(CR) was also compared with that in noncystinotic patients with chronic renal failure with and without rhGH treatment. At study entry, serum creatinine values in group A were similar to those in the historical controls, whereas group B had significantly lower serum creatinine values. Treatment with rhGH did not accelerate the rise in creatinine independently of cysteamine treatment. There were no significant differences in the mean decline of C(CR) per year in cystinotic compared with noncystinotic patients with chronic renal failure with or without rhGH treatment. rhGH therapy for up to 5 y does not accelerate the deterioration of renal function. This justifies the continuation of controlled studies of rhGH treatment in these patients. The study also provides further evidence that cysteamine therapy reduces the progression of renal failure in children with cystinosis.

Child↗
PubMed1997

[Infantile cystinosis].

Infantile cystinosis is a metabolic lysosomal storage disease of cystine affecting most of the body cells. The first symptoms appear after 5-6 months of life: anorexia, vomiting, polyuria, polydipsia and failure to thrive, associated with the signs of tubular Fanconi syndrome including glycosuria, proteinuria, loss of bicarbonate, phosphate, potassium, sodium, etc. Treatment with cysteamine is effective if started as early as possible. This treatment delays or prevents the spontaneous evolution toward end-stage renal failure, usually between 6 and 12 years of age, and also prevents growth stunting. In the long term, other organs may be involved like eye, thyroid, endocrine pancreas, muscle and central nervous system. The diagnosis is ascertained by leucocytes cystine assay, also useful for the follow up and the adjustment of the treatment. Prenatal diagnosis is available on chorionic sample. The gene of the disease is not yet identified but is known to map to chromosome 17.

Child↗
PubMed1997

A controlled study of deflazacort in the treatment of idiopathic nephrotic syndrome.

Forty patients with steroid-dependent idiopathic nephrotic syndrome (INS), a mean follow-up of 5.5 years, and a mean number of relapses of ten were blindly assigned to either deflazacort (DFZ) (n = 20) or prednisone (PDN) (n = 20) according to a ratio of equivalence of DFZ/ PDN = 0.8. This treatment was given for 1 year. The number of relapses was significantly lower in patients receiving DFZ. After 1 year, 12 remained in remission with DFZ compared with 2 with PDN. Growth velocity was not different in the two groups. Bone mineral content, assessed by quantitative computed tomography of L1 L2 vertebrae, decreased after 1 year by 6% in the DFZ group versus 12% in the PDN group (NS). The mean body weight increase of +3.9 +/- 4.1 kg in the PDN group was higher than that of the DFZ group, +1.7 +/- 2.8 kg (P = 0.06). Cushingoid symptoms tended to be less after 12 months in the DFZ group. In conclusion, this study shows that DFZ was more effective than PDN in limiting relapses in steroid-dependent INS, and that cushingoid symptoms, weight gain, and decrease in bone mineral content tended to be less marked with this drug than with PDN.

Adolescent↗
PubMed1997

Posterior urethral valves: long-term renal function consequences after transplantation.

PURPOSE: We assessed the long-term efficacy of renal transplantation in children with posterior urethral valves. MATERIALS AND METHODS: We retrospectively compared the outcomes of renal transplantation in 66 children with posterior urethral valves and 116 with malformation uropathies (controls). RESULTS: Graft survival in the posterior urethral valves and control groups was 69 and 72% at 5 years, and 54 and 50% at 10 years, respectively (not statistically significant). A statistically significant increase in serum creatinine was noted at 10 years in children with posterior urethral valves but not in controls (p < 0.05). CONCLUSIONS: Renal transplantation in children with posterior urethral valves is not associated with a high rate of failure. However, long-term deterioration of graft function is likely related to lower urinary tract dysfunction.

Child↗
PubMed1997

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

Familial juvenile nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disorder, representing the most frequent inherited cause of chronic renal failure in children. One of the responsible loci, NPH1 , has been mapped to 2q13. The presence of large homozygous deletions of approximately 250 kb in the majority of affected patients allowed us to define a minimal deletion interval for NPH1 . A BAC contig covering this interval was established. Combination of large scale genomic sequencing, cDNA selection and computer-aided analysis led to the characterization of two transcriptional units. One encodes the already known BENE protein, and the other encodes a novel protein of at least 732 amino acids containing a putative src homology 3 domain. In two patients carrying the large deletion of the NPH1 region on only one allele, two mutations were detected in two independent exons of the novel gene. One consists of a single base deletion, causing a frameshift, and the other is a G-->A substitution in the consensus 5' splice donor site. Both mutations thus potentially generate null mutants. One of these mutations was found to segregate with the disease in the family, and the second appeared to be a de novo mutation. We therefore conclude that this novel gene is a strong candidate for NPH.

Amino Acid Sequence↗
PubMed1997

Long-term results of renal transplantation in children with the prune-belly syndrome.

PURPOSE: We assessed the long-term efficacy of renal transplantation in children with the prune-belly syndrome. MATERIALS AND METHODS: We retrospectively compared the outcomes of renal transplantation in 9 children with the prune-belly syndrome and 100 with malformative uropathy. RESULTS: Graft survival in the prune-belly syndrome and control groups was 50 and 72% at 5 years, and 50 and 47% at 10 years, respectively (not statistically significant). No statistically significant increase in serum creatinine was noted at 10 years in children with the prune-belly syndrome. Two patients with the prune-belly syndrome underwent internal urethrotomy after transplantation. All patients voided well and did not require intermittent catheterization. CONCLUSIONS: Renal transplantation in children with the prune-belly syndrome is not associated with a high rate of failure. However, these patients must be followed with regular urological evaluation since voiding efficiency may deteriorate.

Child↗