ABSTRACT
Objetivo. Evaluar la eficacia del receptor soluble de transferrina (RST) en el diagnóstico de la anemia ferropénica (AF) y en la evaluación de la respuesta al hierro en los lactantes con desnutrición aguda moderada (DAM). Población y métodos. Se reclutó a lactantes con valores de hemoglobina (Hb) inferiores a los valores umbrales de anemia para su edad y con anemia hipocrómica/microcítica observada en el frotis de sangre periférica. La DAM se definió como un puntaje Z de peso/estatura de entre < -2 y -3. Se compararon los valores del hemograma, los parámetros férricos y el RST entre 41 lactantes con DAM y anemia (grupo DA), 32 lactantes con anemia sin DAM (grupo A) y controles saludables (n= 30). Una vez completado el tratamiento de la anemia y la desnutrición, se repitieron las evaluaciones. Resultados. Además de los índices hematológicos compatibles con AF, los valores de hierro sérico (Fe) y saturación de transferrina (ST) eran significativamente menores, mientras que el valor de transferrina era significativamente mayor en los grupos DA y A en comparación con los controles (p < 0,001). Los valores de ferritina y proteína C-reactiva (PCR) eran significativamente más elevados en el grupo DA (p < 0,05 para la ferritina, p < 0,01 para la PCR). El valor medio del RST fue similar en ambos grupos (DA y A) (p > 0,05) y significativamente mayor que en los controles (p < 0,001). Después del tratamiento con hierro, el RST disminuyó en los grupos DA y A (p < 0,001) a valores similares a los observados en los controles. El RST se correlacionó negativamente con la Hb durante todo el estudio (grupo DA: r= -0,350, p < 0,05; grupo A: r= -0,683, p < 0,01). Conclusiones. Dado que los valores del RST en los grupos DA y A disminuyeron después del tratamiento con hierro, consideramos que este parámetro no estuvo afectado por la DAM ni la inflamación y puede usarse, por sí solo, para detectar la AF y supervisar la respuesta al tratamiento en los lactantes con DAM.
Objective. To evaluate the efficacy of soluble transferrin receptor (sTfR) in diagnosing iron deficiency anemia (IDA) and evaluating iron response in infants with moderate acute malnutrition (MAM). Population and methods. Infants withhemoglobin (Hb) levels lower than threshold values for anemia for their ages and hypochromic/ microcytic anemia on peripheral smear were recruited. MAM was defined as weight/height z score < -2 to -3. Complete blood count (CBC), iron parameters and sTfR were compared among 41 infants with MAM and anemia (MA group), 32 infants with anemia without MAM (group A), and healthy controls (n= 30). Following anemia and malnutrition treatment, tests were repeated. Results. Besides hematological indices compatible with IDA, serum iron (Fe) and transferrin saturation (TS) were significantly lower, while transferrin was significantly higher in MA and A groups compared to controls (p <0.001). Ferritin and C-reactive protein (CRP) were significantly higher in MA group (p <0.05 ferritin, p <0.01 for CRP). Mean sTfR was similar in both MA and A groups (p >0.05) and significantly higher than controls (p <0.001). Following iron treatment, sTfR decreased inboth MA and A groups (p <0.001) to similar values as controls. sTfR was negatively correlated to Hb throughout the study (for MA group, r= -0.350, p <0.05; for A group, r= -0.683, p <0.01). Conclusions. As sTfR values in both MA and A groups decreased following iron treatment, we believe that this parameter was not influenced by MAM or inflammation; and it alone can be used to detect IDA and monitor treatment response in infants with MAM.
Subject(s)
Humans , Male , Female , Infant , Receptors, Transferrin/blood , Anemia, Iron-Deficiency/drug therapy , Anemia, Iron-Deficiency/blood , Malnutrition/blood , Iron/therapeutic use , Severity of Illness Index , Prospective Studies , Treatment Outcome , Anemia, Iron-Deficiency/complications , Anemia, Iron-Deficiency/diagnosis , Malnutrition/complications , Malnutrition/therapyABSTRACT
OBJECTIVE: To evaluate the efficacy of soluble transferrin receptor (sTfR) in diagnosing iron deficiency anemia (IDA) and evaluating iron response in infants with moderate acute malnutrition (MAM). POPULATION AND METHODS: Infants with hemoglobin (Hb) levels lower than threshold values for anemia for their ages and hypochromic/ microcytic anemia on peripheral smear were recruited. MAM was defined as weight/height z score < -2 to -3. Complete blood count (CBC), iron parameters and sTfR were compared among 41 infants with MAM and anemia (MA group), 32 infants with anemia without MAM (group A), and healthy controls (n= 30). Following anemia and malnutrition treatment, tests were repeated. RESULTS: Besides hematological indices compatible with IDA, serum iron (Fe) and transferrin saturation (TS) were significantly lower, while transferrin was significantly higher in MA and A groups compared to controls (p <0.001). Ferritin and C-reactive protein (CRP) were significantly higher in MA group (p <0.05 ferritin, p 0.01 for CRP). Mean sTfR was similar in both MA and A groups (p >0.05) and significantly higher than controls (p <0.001). Following iron treatment, sTfR decreased in both MA and A groups (p <0.001) to similar values as controls. sTfR was negatively correlated to Hb throughout the study (for MA group, r= -0.350, p <0.05; for A group, r= -0.683, p <0.01). CONCLUSIONS: As sTfR values in both MA and A groups decreased following iron treatment, we believe that this parameter was not influenced by MAM or inflammation; and it alone can be used to detect IDA and monitor treatment response in infants with MAM.
Evaluar la eficacia del receptor soluble de transferrina (RST) en el diagnóstico de la anemia ferropénica (AF) y en la evaluación de la respuesta al hierro en los lactantes con desnutrición aguda moderada (DAM).
Subject(s)
Anemia, Iron-Deficiency/blood , Anemia, Iron-Deficiency/drug therapy , Iron/therapeutic use , Malnutrition/blood , Receptors, Transferrin/blood , Acute Disease , Anemia, Iron-Deficiency/complications , Anemia, Iron-Deficiency/diagnosis , Child, Preschool , Female , Humans , Infant , Male , Malnutrition/complications , Malnutrition/therapy , Prospective Studies , Severity of Illness Index , Treatment OutcomeABSTRACT
Kiliç-Yildirim G, Durmus-Aydogdu S, Ceylaner S, Sass JO. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. Turk J Pediatr 2017; 59: 471-474. Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase, MAT or T2 deficiency) is a rare autosomal recessive disorder of isoleucine and ketone body metabolism due to acetyl-CoA acetyltransferase-1 (ACAT1) gene mutations. The disease is characterized by recurrent episodes of ketoasidosis which starts with vomiting and followed by dehydration and tachypnea. Here, we present a patient who was admitted to the hospital with severe acidosis and dehydration because of vomiting induced by protein rich nutrient and was diagnosed with MAT deficiency. 3-hydroxy-butyric acid, acetoacetic acid and 3-hydroxy-iso-valeric acid levels were significantly increased and tiglyglycine as trace amount in the urine organic acid analysis of the patient. Genetic analysis for ACAT-1 showed compound heterozygosity for the mutations c.949G > A (p.D317N) and c.951C > T (p.D317D), which both are known to cause exon 10 skipping and to be pathogenic missense mutations.
Subject(s)
Acetyl-CoA C-Acyltransferase/deficiency , Amino Acid Metabolism, Inborn Errors/diagnosis , Ketosis/etiology , Acetyl-CoA C-Acetyltransferase/genetics , Humans , Infant , Male , Mutation, Missense , RecurrenceABSTRACT
The aim of this study was to evaluate the changes in the ghrelin, leptin, and fat levels in the foremilk and hindmilk and the possible relationship between these levels with the age and growth of term healthy infants. Sixty-two babies were subdivided (according to their nutrition) into breastfed (BF), formula-fed (FF), and BF plus FF (BF + FF) groups. The total and active ghrelin and tryglyceride levels and the total cholesterol levels in the foremilk and hindmilk were studied at the first and second visits (mean of the second and fifth months, respectively). At both visits, the total and active ghrelin and the total cholesterol levels were lower in the hindmilk than in the foremilk. However, the triglyceride levels were higher in the hindmilk than in the foremilk (p < 0.001). The leptin levels were also higher in the hindmilk, but this difference was not statistically significant. At the second visit, the mean total foremilk ghrelin (p < 0.01), leptin (p < 0.05), tryglyceride (p < 0.001), and cholesterol (p < 0.01) levels in the BF group were decreased compared with the levels at the first visit, whereas the active ghrelin levels increased (p < 0.001). At the second visit, we observed a 3.5% increase in the body mass index in BF infants, a 14.6% increase in FF infants, and an 11.8% increase in BF + FF infants (p < 0.01). The foremilk leptin levels were lower in the BF + FF group than in the BF group at both visits. In conclusion, at the first and second visits, the decreased ghrelin and increased tryglyceride and leptin levels in the hindmilk might be associated with the important role of self-control when feeding BF infants. The stable content of formulas might be associated with a lack of self-control during feeding and increased nutrition. Changing the breast milk ghrelin, leptin, and fat levels between the foremilk and hindmilk and between the first and second visits might explain the differences in the weight gain patterns of BF and FF infants.
Subject(s)
Breast Feeding , Colostrum/chemistry , Fatty Acids/analysis , Ghrelin/analysis , Leptin/analysis , Milk, Human/chemistry , Body Weight , Child Development , Colostrum/metabolism , Female , Humans , Infant , Infant Food/analysis , Lactation , Milk, Human/metabolism , PregnancyABSTRACT
A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome. However, in view of the growth failure, fair hair and skin, proteinuria, polyuria and active rickets, cystinosis was considered. Bone marrow smear examination was normal, despite the existence of suspicious crystals in the cornea. Cystine crystals were seen in the conjunctiva biopsy and increased leukocyte cystine level was measured; therefore, definitive cystinosis diagnosis was made. Renal Fanconi syndrome with metabolic acidosis is prominent in cystinosis; however, in rare instances, if sodium-dependent trans-tubular transport defect is present, patients could have Bartter syndrome findings such as hypochloremic metabolic alkalosis. Our case is a good example demonstrating that metabolic alkalosis should not exclude cystinosis and the other signs and symptoms of the patient should be thoroughly evaluated.
Subject(s)
Fanconi Syndrome/diagnosis , Bartter Syndrome/diagnosis , Diagnosis, Differential , Humans , Infant , MaleABSTRACT
We describe the first family report of ARC syndrome (arthrogryposis multiplex congenita, renal dysfunction, and cholestasis) diagnosed in Turkey. ARC syndrome is a rare cause of cholestatic jaundice and skeletal abnormalities in the neonatal period. Fanconi-like renal tubular dysfunction completed the clinical picture. Consanguinity and affected membership are the other typical components of this rare disorder, and possibility of autosomal recessive transmission was considered. A broad spectrum of histopathological abnormalities have been described in the liver and kidney. In this report, we describe two male siblings with ARC syndrome who had cholestatic jaundice, arthrogryposis multiplex congenital-like joint contractures and renal involvement with additional clinical features. Clinical and pathological aspects of the syndrome are discussed and compared with the other cases in the literature.
