RESUMO
Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (Potter phenotype). Absence or paucity of differentiated proximal tubules is the histopathological hallmark of the disease and may be associated with skull ossification defects. We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. We propose that renal lesions and early anuria result from chronic low perfusion pressure of the fetal kidney, a consequence of renin-angiotensin system inactivity. This is the first identification to our knowledge of a renal mendelian disorder linked to genetic defects in the renin-angiotensin system, highlighting the crucial role of the renin-angiotensin system in human kidney development.
Assuntos
Anuria/etiologia , Genes Recessivos , Túbulos Renais/anormalidades , Mutação/genética , Adolescente , Angiotensinogênio/genética , Família , Feminino , Heterozigoto , Homozigoto , Humanos , Recém-Nascido , Túbulos Renais/patologia , Masculino , Peptidil Dipeptidase A/genética , Gravidez , Receptor Tipo 1 de Angiotensina/genética , Renina/genéticaRESUMO
THE OBJECTIVE: To compare the tocolytic action and the side effects of nicardipine to those of salbutamol in patients presenting premature labor in order to propose nicardipine as a promising alternative to salbutamol in the treatment of premature labor. METHODS: forty eight patients admitted for premature labor were included in this prospective randomized study comparing nicardipine and salbutamol, administered with intra venous drip. The nicardipine group included 25 patients and the salbutamol group included 23 patients. RESULTS: the epidemiologic characteristics of the 2 groups are similar. No significant difference between the 2 groups was noted in the average time of disappearance of the uterine contractions. In nicardipine group, the pregnancy was prolonged more than 48 hours in 87.5% of the cases against 85.8% in salbutamol group (P: NS). Adverse effects linked to tocolysis were recorded. In nicardipine group, 8% of the patients presented an intolerance of the molecule, against 47% of salbutamol group, the difference is significant (P = 0.02). The term of delivery was similar in both groups The neonatal status of the infants was identical in the two groups. In the group of new born hospitalized, we did not note biological disorders concerning the glycemia and the calcemy. CONCLUSION: nicardipine is at least as effective as salbutamol in tocolysis; but it has lest secondary effects. Thus, nicardipine is proposed as the tocolytic of first intention instead of the salbutamol which is considered as reference molecule.
Assuntos
Albuterol/uso terapêutico , Nicardipino/uso terapêutico , Trabalho de Parto Prematuro/tratamento farmacológico , Tocolíticos/uso terapêutico , Adulto , Feminino , Humanos , Gravidez , Estudos ProspectivosRESUMO
The hypothyroidism is a frequent endocrinopathos. The authors report a retrospective study of 67 cases gathered at pediatric department of Sfax, during 23 years. 40 boys and 42 girls aged from 1 to 164 months, with an average of 55 months old children. The most clinical symptoms have been the dysmorphic syndrome (81.17%), Huge tongue (59.75%), the T3 is low in 30.48%, the FT4 or the T4 is low in 79% and the TSH is high in 84.14%. All the patients have benefitted a treatment based on thyroidian extract from 1977 to 1984, and since 1985 it was based on L. Thyroxin. The neuropsychiatric prognosis satisfactory in 72% and 28% have a mental delay and 56% a delay in growth. The authors insist on the necessity of doing an early diagnosis and treatment which is the only way and issue leading to a favorable neuropsychiatric evolution.