RESUMEN
We report on a female preterm infant with hepatic failure and neonatal tissue siderosis of hemochromatotic type diagnosed by using both histochemistry and atomic absorption spectroscopy. The infant presented with meconium ileus, signs of rapidly progressive hepatic failure, and hyperferritinemia (7132 ng/ml). Despite surgery and intensive care the infant died 32 days after birth. Postmortem examination showed a wrinkled liver with extensive collapse of the hepatic architecture and regenerating nodules as well as hepatic and extrahepatic iron accumulation of hemochromatotic type, sparing the reticuloendothelial system. Atomic absorption spectroscopy confirmed an increase in the iron content of various organs: liver, heart, pancreas, oral salivary gland, kidney, and adrenal gland. The increase in the iron content of various organs was determined by comparing the analysis of the propositus with those of 5 gestationally age-related preterm infants who had died in the intensive care unit: 2 died of meconium aspiration syndrome, the other 3 of hyaline membrane disease, bronchopulmonary dysplasia, and immaturity, respectively. We also compared the analysis of 15 fetuses having a a condition predisposing to iron accumulation (trisomy 21, trisomy 18, cytomegalovirus, amnion infection syndrome, Rhesus- and ABO-incompatibility, congenital hemolysis, anti-phospholipid syndrome, congenital heart disease). Delta F508, the most frequent mutation seen in cystic fibrosis patients, was excluded by gene sequencing. Different noxae causing iron accumulation in the neonatal period have led to the statement that neonatal hemochromatosis may collect different etiologies, such as metabolic disorders, infections, chromosomal aberrations, and immunological disorders. In this study, we report the singular evidence of neonatal iron accumulation of hemochromatotic type in an infant presenting with meconium ileus and propose a classification of the neonatal disorders associated with iron accumulation.
Asunto(s)
Hemocromatosis/patología , Obstrucción Intestinal/congénito , Fallo Hepático/patología , Siderosis/patología , ADN/análisis , Análisis Mutacional de ADN , Resultado Fatal , Femenino , Hemocromatosis/complicaciones , Hemocromatosis/metabolismo , Histocitoquímica , Humanos , Recién Nacido , Obstrucción Intestinal/complicaciones , Hierro/análisis , Hierro/metabolismo , Fallo Hepático/etiología , Fallo Hepático/metabolismo , Meconio , Reacción del Azul Prusia , Siderosis/complicaciones , Siderosis/metabolismo , Espectrofotometría AtómicaRESUMEN
We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus hyperplasia; cryptorchidism; generalized muscle hypotonia; and a distinctive facial appearance. The clinical course was marked by severe neurodevelopmental deficits combined with progressive respiratory decompensation leading to death at the age 6 months. Magnetic resonance imaging (MRI) disclosed a generalized cerebral atrophy with a marked deficit of the white matter. Renal ultrasound and MRI showed markedly enlarged kidneys with multiple small cystic lesions, a pattern indistinguishable from polycystic kidney disease. The postmortem kidney biopsy revealed dysplastic changes, microcysts, and a focal nephrogenic rest, characteristic features of the Perlman syndrome. In children with fetal gigantism, renal abnormalities, and neurological deficits, Perlman syndrome should be considered and may be confirmed by kidney biopsy.
Asunto(s)
Anomalías Múltiples/patología , Resultado Fatal , Femenino , Gigantismo/patología , Humanos , Lactante , Recién Nacido , Riñón/anomalías , Masculino , Enfermedades del Sistema Nervioso/patología , SíndromeRESUMEN
UNLABELLED: We report on two siblings suffering from a new congenital tubulopathy. Following normal pregnancies not complicated by polyhydramnios, severe renal losses of potassium, chloride, sodium and magnesium occurred in the first weeks after birth. Calcium metabolism was not affected. The distal tubular chloride reabsorption was considerably decreased in the two siblings (0.25 and 0.28, respectively). Secondary hyperaldosteronism, activation of the kallikrein-kinin system and elevated urinary prostaglandin excretion were observed. The effects of indomethacin, spironolactone and captopril on symptoms, electrolyte wasting, activation of renin-angiotensin-aldosterone and kallikrein-kinin system and prostaglandin synthesis were studied. In spite of persisting elevation of prostaglandin synthesis, captopril decreased electrolyte wasting, polyuria and hyperaldosteronism most effectively. CONCLUSION: We delineate an apparently new disorder characterized by a postnatal onset, an extremely decreased chloride reabsorption with extensive hyperchloriduria and hypermagnesiuria in the presence of normal calcium metabolism. The disorder can be distinguished from other tubulopathies with hypokalaemic alkalosis.
Asunto(s)
Enfermedades Renales/genética , Túbulos Renales , Absorción , Cloruros/metabolismo , Femenino , Humanos , Recién Nacido , Enfermedades Renales/diagnóstico , Enfermedades Renales/tratamiento farmacológico , Enfermedades Renales/fisiopatología , Túbulos Renales/metabolismo , Túbulos Renales/fisiopatología , MasculinoRESUMEN
The diuretic and natriuretic response to water immersion, which is known to increase effective central blood volume, was studied in eight edematous children with nephrotic syndrome. The rise in central blood volume was indicated by a decrease in hematocrit from preimmersion median of 40.2% to 38.6% during water immersion (P less than 0.05, Friedman test). Similarly, serum protein concentration fell from 36.7 gm/L to 33.5 gm/L (P less than 0.05). Water immersion induced diuresis from a preimmersion median of 0.33 ml/min/1.73 m2 to 1.52 ml/min/1.73 m2 (P less than 0.05). Osmolar clearance rose, as did sodium and potassium excretion. Urine osmolality fell during water immersion (P less than 0.05). Serum sodium concentration and plasma osmolality did not change. Plasma arginine vasopressin values fell from 11.1 pg/ml to 3.0 pg/ml (P less than 0.05), as did renin activity (8.5 ng to 5.2 ng angiotensin l/ml/hr, P less than 0.01), aldosterone (18.0 ng/dl to 10.1 ng/dl), and norepinephrine (344 pg/ml to 213 pg/ml, P less than 0.05). Water immersion produces a potent natriuretic and diuretic response in children with nephrotic syndrome.