RESUMO
We studied 5-year-old children and their patients in 80 families and observed an association between the hemoglobin concentrations of the children and their parents before and after iron medication. We speculate that inheritance may exert a significant influence; iron deficiency did not explain the finding.
Assuntos
Anemia/genética , Hemoglobinas/análise , Anemia/sangue , Pré-Escolar , Feminino , Hemoglobinas/genética , Humanos , Ferro/uso terapêutico , Modelos Lineares , MasculinoRESUMO
The discriminatory power of a gonadotropin-releasing hormone test and a human chorionic gonadotropin test in diagnosing gonadotropin deficiency was studied in 23 prepubertal boys with hypogonadotropic hypogonadism (HH). The boys were originally referred because of genital hypoplasia, delayed sexual maturation, or suspicion of HH. The diagnosis of HH was established clinically, in most cases after follow-up of several years. The results were compared with those of a reference group consisting of 44 prepubertal boys with incomplete testicular descent. Post-hCG serum testosterone level was the most sensitive discriminating variable, and was subnormal in 11 of 12 boys with HH (in one of 16 in the reference group). Post-GnRH serum LH concentration was the second most sensitive, and was subnormal in 15 of 23 boys with HH (two of the reference group). Our data indicate that post-hCG testosterone levels are of greater value than post-GnRH gonadotropin levels in the diagnosis of HH in prepubertal boys.
Assuntos
Gonadotropina Coriônica/sangue , Hipogonadismo/diagnóstico , Hormônios Liberadores de Hormônios Hipofisários/sangue , Puberdade , Adolescente , Adulto , Criança , Pré-Escolar , Hormônio Foliculoestimulante/sangue , Hormônio do Crescimento/sangue , Humanos , Hipogonadismo/sangue , Lactente , Hormônio Luteinizante/sangue , Masculino , Estudos Retrospectivos , Testosterona/sangueRESUMO
We report a new type of congenital "secretory diarrhea" in a 9-year-old girl that led to contraction and severe metabolic acidosis in the first weeks of life. Her fecal Na+ concentration was high and the pH alkaline. All known causes of secretory diarrhea were excluded. Our findings indicate a defect in the handling of Na+ and H+ in the distal ileum and colon. Treatment with orally administered Na-K-citrate supplementation has normalized her fluid and electrolyte status and allowed normal growth and psychomotor development, but the diarrhea has persisted.
Assuntos
Diarreia/congênito , Sódio/metabolismo , Acidose/etiologia , Adolescente , Aldosterona/metabolismo , Citratos/uso terapêutico , Ácido Cítrico , Diarreia/complicações , Diarreia/metabolismo , Eletrólitos/metabolismo , Fezes/metabolismo , Feminino , Hormônios Gastrointestinais/metabolismo , Humanos , Hidrogênio/metabolismo , Absorção Intestinal , Mucosa Intestinal/metabolismo , Testes de Função Renal , Renina/sangueRESUMO
Thirty-six infants who were exclusively breast-fed were observed for 9 months. Thirty-two infants who were completely weaned prior to age 3 1/2 months served as controls; these infants received iron supplementation in formula and solid foods. A great majority of exclusively breast-fed infants were able to maintain their iron status at the same level as that of the control infants. The mean concentration of hemoglobin was higher in breast-fed infants than in control infants at ages 4 and 6 months. However, six breast-fed infants required iron medication because they had laboratory evidence of iron deficiency, although none had anemia. Maternal iron supplementation during breast-feeding, even in large daily doses, did not have any effect on the infants' iron nutrition, nor prevent infants from developing some signs of iron deficiency. Our data indicate that it is safe in exclusively breast-fed infants to shift the starting age for introduction of iron to 6 months.
Assuntos
Anemia Hipocrômica/etiologia , Aleitamento Materno , Ferro/administração & dosagem , Adulto , Anemia Hipocrômica/tratamento farmacológico , Feminino , Humanos , Lactente , Recém-Nascido , Risco , Fatores de TempoRESUMO
The defect of epithelial diamino acid transport in lysinuric protein intolerance (LPI) results from an abnormality of the basolateral cell membranes. Therefore the lysine deficiency, which is one of the consequences of this defect, cannot be corrected by oral administration of lysine, either in free or peptide form. In search of useful lysine derivatives, we studied in patients with LPI the absorption after oral administration of homocitrulline and epsilon N-acetyllysine. Acetyllysine, but not homocitrulline, normalized the subnormal plasma lysine concentrations.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/tratamento farmacológico , Citrulina/análogos & derivados , Lisina/análogos & derivados , Lisina/deficiência , Administração Oral , Adolescente , Adulto , Criança , Pré-Escolar , Citrulina/administração & dosagem , Feminino , Humanos , Lisina/administração & dosagem , Lisina/sangue , MasculinoRESUMO
In lysinuric protein intolerance, a disease resulting from an autosomal recessive disorder of diamino acid transport, citrulline, unlike arginine and lysine, is absorbed normally from the intestine. In 19 patients with LPI, the status after 2 years of treatment with citrulline or citrulline + lysine was compared with that during the preceding period of treatment with arginine. Administration of citrulline led to improved protein nutrition, as indicated by increases in daily protein intake, blood hemoglobin values, and plasma albumin and valine concentrations. Normal excretion of orotic acid indicated adequate urea cycle function. Seven of the nine stunted children had marked catch-up growth. Of four patients biopsied twice and having initially severe fatty degeneration of the liver, two had improved histology. However, hepato- and splenomegaly, and several biochemical abnormalities in the serum remained unchanged. Giving additional lysine did not enhance the favorable effect, but in some patients provoked abdominal cramps and diarrhea. Citrulline is the most valuable agent for treatment of LPI. Although not curative, it corrects the deficiency of the urea cycle intermediates and protects the patients from hyperammonemia and its consequences.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Citrulina/uso terapêutico , Lisina/metabolismo , Adolescente , Arginina/uso terapêutico , Criança , Pré-Escolar , Complemento C3/análise , Feminino , Crescimento , Hemoglobinas/análise , Humanos , Lactente , Recém-Nascido , Lisina/uso terapêutico , Masculino , Albumina Sérica/análiseRESUMO
Congenital chloride diarrhea is an inherited defect of active intestinal Cl- transport which results in a large wastage of electrolytes and water. The effects of this disease and of replacement therapy on renal histology, function, growth, and the renin-angiotensin-aldosterone system were studied in 18 patients. When the patients were given KCl supplement, histologic findings included juxtaglomerular hyperplasia hyalinized glomeruli, calcifications, and arteriolar changes. Renal function and growth were reduced, and the hormonal activities were high. These abnormalities were evidently due to chronic dehydration. The dehydration could be corrected by increasing the dose of KCl, but only the addition of NaCl corrected the hyperaldosteronism. Adequate replacement therapy prevented the renal involvement.