RESUMEN
Placental chorioangioma (CA) is a benign placental tumor. No specific treatment is required for asymptomatic cases. We report a female infant born to a mother with giant placental CA. However fetal growth was normal and, fetal hydrops was not detected by ultrasound examination until delivery, she had hydrops, subgaleal hematoma, thrombocytopenia, hemolytic anemia, respiratory distress and circulatory failure after birth. She was successfully treated without any neurological sequelae. At 2 months of age, infantile hemangioma appeared in her lower lip. The present case suggested that giant placental CA might cause postnatal problems and be associated with the development of infantile hemangioma.
Asunto(s)
Anemia Hemolítica/etiología , Edema/etiología , Hemangioma/complicaciones , Neoplasias de los Labios/patología , Enfermedades Placentarias/patología , Complicaciones Neoplásicas del Embarazo/patología , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Choque/etiología , Antagonistas Adrenérgicos beta/uso terapéutico , Anemia Hemolítica/terapia , Coagulación Intravascular Diseminada/etiología , Coagulación Intravascular Diseminada/terapia , Edema/terapia , Transfusión de Eritrocitos , Femenino , Hemangioma/diagnóstico por imagen , Hemangioma/tratamiento farmacológico , Hemangioma/patología , Hepatomegalia/etiología , Humanos , Hipoalbuminemia/etiología , Hipoalbuminemia/terapia , Recién Nacido , Neoplasias de los Labios/tratamiento farmacológico , Enfermedades Placentarias/diagnóstico por imagen , Plasma , Embarazo , Complicaciones Neoplásicas del Embarazo/diagnóstico por imagen , Propranolol/uso terapéutico , Púrpura/etiología , Púrpura/terapia , Síndrome de Dificultad Respiratoria del Recién Nacido/terapia , Choque/terapia , Esplenomegalia/etiología , Trombocitopenia/etiología , Trombocitopenia/terapia , Carga Tumoral , Ultrasonografía Prenatal , Vasoconstrictores/uso terapéuticoRESUMEN
A primary role of P-glycoprotein (P-gp), encoded by the multidrug resistance type I gene, is to protect against naturally occurring xenotoxics. Recently, the preferential expression of chicken multidrug resistance type I (Cmdr1) was identified in the embryonic gonads during the early periods of development. Here we investigated the expression of Cmdr1 and P-gp in the gonads during embryogenesis, and compared to that in the ovarian follicles of domestic hens (Gallus gallus). As revealed by immunohistochemistry, P-gp was highly expressed in theca cells of mature follicles, whereas the expression was low in immature follicles. Immunohistochemical analysis showed that expression of Cmdr1-type P-gp was very low in embryonic gonads. Cmdr1 mRNA was undetectable in the gonads of 5-day embryos (E5) by RT-PCR, whereas Cmdr1 mRNA was significantly detectable in the developing gonads at E9 and E21. In the testicular tissues, germ cells were distributed along developing seminiferous cords as identified by a specific marker gene, whereas Cmdr1-type P-gp positive cells were observed evenly on testicular tissues. Collectively, it is concluded that Cmdr1 expression is initiated in the chicken ovary and testis after sexual differentiation, but expression of Cmdr1-type P-gp is very low through embryogenesis.
Asunto(s)
Pollos/genética , Gónadas/embriología , Gónadas/metabolismo , Miembro 1 de la Subfamilia B de Casetes de Unión a ATP/genética , Miembro 1 de la Subfamilia B de Casetes de Unión a ATP/metabolismo , Animales , Embrión no Mamífero/metabolismo , Desarrollo Embrionario , Femenino , Perfilación de la Expresión Génica , Regulación de la Expresión Génica , Masculino , ARN Mensajero/genética , ARN Mensajero/metabolismo , Testículo/metabolismo , Células Tecales/citologíaRESUMEN
PURPOSE: To examine whether the activity of peripheral sympathetic nerves in animals with spinal cord injury can be controlled using therapeutic electrical stimulation. METHODS: The spinal cords of 6 Wistar rats were severed at T12/T13 disk level and were given continuous therapeutic electrical stimulation. Microneurography was used to record sympathetic nerve activity at 24, 48, and 72 hours after severing the spinal cord. RESULTS: Integrated values of muscle sympathetic nerve activity after 72 hours of therapeutic electrical stimulation revealed significantly larger potentials on the stimulated side than the non-stimulated side. Skin sympathetic nerve activity showed no difference between the 2 sides. CONCLUSION: Therapeutic electrical stimulation was found to have a facilitatory effect on the muscle sympathetic nerve activity, whereas regulatory function was activated by the sympathetic nerves.
Asunto(s)
Terapia por Estimulación Eléctrica , Traumatismos de la Médula Espinal/terapia , Sistema Nervioso Simpático/fisiología , Animales , Vías Autónomas/fisiología , Modelos Animales de Enfermedad , Electrodos Implantados , Femenino , Masculino , Sistema Nervioso Periférico/fisiología , Probabilidad , Ratas , Ratas Wistar , Factores de Riesgo , Sensibilidad y EspecificidadRESUMEN
PURPOSE: To assess the effectiveness of sympathetic skin response in evaluating peripheral sympathetic nerve activity of patients with spinal cord injury, and to report on the basic properties of sympathetic skin response. METHODS: Sympathetic skin response evoked by electrical stimulation was recorded from the palms and soles of healthy volunteers and patients with spinal cord injury. RESULTS: Sympathetic skin response was recorded in 17 healthy volunteers and 14 patients with spinal cord injury. Of the 4 waveforms, the shortest latency was obtained from the palm; the sympathetic skin response was 1.2 to 1.4 ms at all stimulated sites, 1.9 to 2.0 ms at the sole, with a difference of about 0.6 ms between the palm and the sole. None of the patients with spinal cord injury responded at either the upper or lower limbs. In patients with a thoracic cord injury, some responded at the upper limbs but none at the lower limbs; some responded at neither upper nor the lower limbs; and some responded at both upper and lower limbs. The conducting pathway of sympathetic skin response in the spinal cord for the upper limbs descends to the upper thoracic cord (T4-6), and the conducting pathway for the lower limbs departs from the spinal cord at the lower thoracic cord (T9-10). CONCLUSION: It appears that sympathetic skin response should be used for the evaluation and morbid investigation of the functional abnormalities of the sympathetic nervous system in patients with spinal cord lesions such as spinal cord injuries, cervical spondylosis, and spinal canal stenosis.
Asunto(s)
Estimulación Eléctrica , Piel/inervación , Traumatismos de la Médula Espinal/fisiopatología , Sistema Nervioso Simpático/fisiopatología , Adolescente , Adulto , Estudios de Casos y Controles , Potenciales Evocados Somatosensoriales , Femenino , Pie , Mano , Humanos , Puntaje de Gravedad del Traumatismo , Masculino , Persona de Mediana Edad , Regeneración Nerviosa/fisiología , Paraplejía , Cuadriplejía , Valores de Referencia , Muestreo , Sensibilidad y Especificidad , Traumatismos de la Médula Espinal/diagnósticoRESUMEN
PURPOSE: To determine the diagnostic utility of waveform analysis of compound muscle action potentials (CMAP) for carpal tunnel syndrome (CTS). METHODS: A total of 131 hands in 71 patients diagnosed with CTS (grouped according to severity) and 80 hands in 44 normal subjects were evaluated using nerve conduction test through the carpal tunnel combined with waveform analysis of CMAP. RESULTS: Compared to normal subjects, the sensory nerve conduction velocity and mean frequency of the CMAP waveform were significantly reduced in patients with CTS. Compared with distal motor latency and sensory nerve conduction velocity, the mean frequency of the CMAP decreased significantly with increasing clinical severity. CONCLUSION: This study suggests that waveform analysis of CMAP is of diagnostic value in CTS, and is also of value in objective evaluation of postoperative recovery of carpal median nerve dysfunction.
Asunto(s)
Potenciales de Acción/fisiología , Síndrome del Túnel Carpiano/diagnóstico , Nervio Mediano/fisiopatología , Conducción Nerviosa/fisiología , Muñeca/inervación , Adulto , Anciano , Anciano de 80 o más Años , Síndrome del Túnel Carpiano/cirugía , Estudios de Casos y Controles , Electromiografía/métodos , Electrofisiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Periodo Posoperatorio , Valores de Referencia , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Análisis Espectral/métodosRESUMEN
PURPOSE: To conduct a median nerve conduction study on patients with carpal tunnel syndrome and investigate the relationship between nerve conduction study parameters and clinical grading. METHODS: A nerve conduction study was performed on 60 upper limbs of 37 patients with idiopathic carpal tunnel syndrome, and the relationship between the clinical grade and various study parameters was assessed. RESULTS: The amplitude of the sensory nerve action potential and the motor nerve action potential differed according to clinical grading, but this pattern was not seen for sensory nerve conduction velocity, motor nerve conduction velocity, or motor nerve terminal latency and clinical grading. CONCLUSION: The amplitude of the sensory nerve action potential and motor nerve action potential reflect the functional state of axons, and are useful parameters for assessing clinical grading based on nerve conduction velocity.
Asunto(s)
Potenciales de Acción/fisiología , Síndrome del Túnel Carpiano/fisiopatología , Nervio Mediano/fisiopatología , Conducción Nerviosa/fisiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Síndrome del Túnel Carpiano/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neuronas Motoras/fisiología , Neuronas Aferentes/fisiología , Índice de Severidad de la EnfermedadRESUMEN
OBJECTIVES: To compare respiratory and electrical methods of evoking a sympathetic skin response (SSR). METHODS: SSRs evoked by both electrical and respiratory stimulation were recorded from the palms of 47 healthy volunteers. Expiration and inspiration were used as separate stimuli. The correlation coefficients between the amplitude and latency of the SSR from the palm electrodes and the various components of heart rate variability were calculated. RESULTS: Waveform patterns of the SSRs obtained from electrical stimulation showed varied responses to and habituation to this type of stimulation. On the other hand, no subjects showed a phase change in SSR waveform patterns between the first and last expiratory stimuli. The potentials recorded after expiratory stimulation had significantly greater amplitudes than those recorded after electrical stimuli. The low frequency component of heart rate variability induced by expiratory stimulation was significantly greater than that induced by electrical stimulation. The SSR may also correlate strongly with the change of respiratory rate since a more rapid pressure change occurs during expiratory movement than during inspiratory movements. CONCLUSIONS: The SSR evoked by expiratory stimulation is more reliable than either electrical stimulation or inspiratory stimulation for determining sympathetic function.
Asunto(s)
Mecánica Respiratoria/fisiología , Piel/inervación , Sistema Nervioso Simpático/fisiología , Adulto , Estimulación Eléctrica , Electrocardiografía , Electromiografía , Femenino , Habituación Psicofisiológica , Frecuencia Cardíaca/fisiología , Humanos , Inhalación/fisiología , Masculino , Valores de ReferenciaRESUMEN
Fatal infantile mitochondrial cytopathy associated with a C3303T mutation in the mitochondrial tRNA(Leu(UuR)) gene has been reported clinically, biochemically and genetically. Here we have analyzed the percentage of this mutation in various autopsied tissues, and also in single muscle fibers using a micromanupulator, to evaluate the correlation between the pathology and heteroplasmic condition using polymerase chain reaction/restriction fragment length polymorphism. A 5-month-old Japanese girl was admitted to our hospital showing generalized muscle weakness, hepatomegaly, and cardiomegaly with lactic acidosis, and died at 6 months of age. Skeletal muscle showed severe degenerating myopathy found to be full of ragged-red fibers (RRFs), an increased number of lipid droplets, and severe cytochrome c oxidase (COX) deficiency. Microscopically hepatocytes showed massive accumulation in lipid droplets, and the heart muscle showed a network pattern suggesting metabolic cardiomyopathy. The activities of respiratory chain enzyme complex I and complex IV in the skeletal muscle were significantly decreased to 23.4% and 5.0%, respectively, of the control value. The percentage of C3303T mutation in the patient tissues were variable, and ranged from 25% in the pancreas to 99% in the spinal cord. By single fiber analysis, the percentages of C3303T mutation in RRFs with COX negative (group 1; 42.4+/-7.0) and with COX positive (group 2; 58.2+/-5.8) were significantly higher than in non RRFs with normal COX staining (group 3; 10.7+/-6.3) (both P>0.001). Our patient showed a fatal infantile form of encephalopathy, myopathy and cardiomyopathy associated with widely distributed C3303T mutation in all of somatic cells.
Asunto(s)
ADN Mitocondrial/genética , Miopatías Mitocondriales/genética , Mutación Puntual/genética , ARN de Transferencia/genética , Análisis Mutacional de ADN , Transporte de Electrón/genética , Femenino , Humanos , Lactante , Hígado/enzimología , Hígado/patología , Miopatías Mitocondriales/enzimología , Miopatías Mitocondriales/patología , Músculo Esquelético/enzimología , Músculo Esquelético/patología , Miocardio/enzimología , Miocardio/patología , ARN de Transferencia/metabolismoRESUMEN
The pharmacokinetics characteristics of propranolol (PPL) in horses was studied by administering the drug intravenously or orally to the animals. The predominant primary pathway was ring oxidation, and 4-hydroxypropranolol glucuronide (4-OHPG) was the major metabolite in both plasma and urine. Side-chain glucuronidation and oxidation were not significant. A two-compartment model was employed for PPL followed by a one-compartment model for 4-OHPG. After oral administration, one-step absorption and two-step first pass metabolism were employed. The fraction absorbed of PPL was approximately 70% after oral administration, and the bioavailability varied among individual horses from 1 to 79% depending on the first pass metabolism. The biologic half-life (T1/2) of PPL obeys the allometric equation in some animal species including rats and horses, except for human. T 1/2 of PPL in horses was approximately 2 h.
Asunto(s)
Antagonistas Adrenérgicos beta/farmacocinética , Caballos/metabolismo , Propranolol/farmacocinética , Administración Oral , Antagonistas Adrenérgicos beta/administración & dosificación , Algoritmos , Animales , Biotransformación , Calibración , Cromatografía Líquida de Alta Presión , Fluorometría , Glucurónidos/sangre , Glucurónidos/metabolismo , Glucurónidos/orina , Inyecciones Intravenosas , Masculino , Modelos Biológicos , Propranolol/administración & dosificación , Distribución TisularRESUMEN
PURPOSE: We investigated the possible use of acupuncture for the treatment of urinary incontinence caused by detrusor hyperflexia in patients with chronic spinal cord injury. METHOD: A total of 8 male chronic spinal cord injured patients with urinary incontinence were treated by acupuncture. Their ages ranged from 20 to 33 years (mean 27). The level of lesion was cervical in 4 and thoracic in 4. Detrusor hyperreflexia with uninhibited bladder contraction was confirmed by urodynamic studies in all of them. Acupuncture was performed using a disposable stainless needle (0.3 mm in diameter, 60 mm in length), which was inserted into bilateral BL-33 (Zhongliao) points and was rotated manually for 10 minutes. The treatment was conducted every week for 4 weeks. Urodynamic studies were repeated, immediately after the beginning of and a week after the completion of the treatment. Urinary symptoms were also checked before and after the treatment. RESULTS: No side effects were recognized throughout the treatment period. Among 8 patients, incontinence was controlled completely in 3 (38%) and partially in 3 (38%). The average maximum cystometric bladder capacity increased significantly, from 42.3 +/- 37.9 ml to 148.1 +/- 101.2 ml by the treatment (p < 0.05), while the average maximum bladder pressure was not changed. CONCLUSIONS: These data suggest that acupuncture could be a promising alternative for conventional therapies for urinary incontinence caused by detrusor hyperreflexia in patients with chronic spinal cord injuries.
Asunto(s)
Terapia por Acupuntura , Traumatismos de la Médula Espinal/complicaciones , Incontinencia Urinaria/terapia , Adulto , Enfermedad Crónica , Humanos , Masculino , Incontinencia Urinaria/etiologíaAsunto(s)
Anhidrasas Carbónicas/deficiencia , Acidosis Tubular Renal/etiología , Acidosis Tubular Renal/fisiopatología , Encefalopatías Metabólicas/etiología , Encefalopatías Metabólicas/fisiopatología , Calcinosis/etiología , Calcinosis/fisiopatología , Anhidrasas Carbónicas/genética , Diagnóstico Diferencial , Humanos , Hiperpotasemia/etiología , Hipopotasemia/etiología , Mutación , Osteopetrosis/etiología , Osteopetrosis/fisiopatología , PronósticoRESUMEN
Sympathetic skin response (SSR) has been developed recently as a method of capturing the autonomic nerve response as a parameter of the sweat gland function. In this study, our aim was to obtain the normal values with regard to both amplitude and latency of SSR from 50 healthy subjects and to find out the habituation mode, which is one of the most characteristic phenomena of SSR. The measurements were recorded from the hand and foot by rectangular waveform electric stimulation. The correlation coefficient regarding hand and foot leads, amplitude, and latency were studied at normal values. The result was that no significant difference could be observed between the left and right leads with regard to amplitude and latency recorded from the hand and foot leads. However, between hand and foot leads, a significant difference was observed for both latency and amplitude. As for the habituation, electric stimulations were also applied to 20 healthy subjects (age range, 21-62 yr) in the same manner as that used in taking the normal values. For the latency and amplitude of the response in association with the stimulation trials (Rn), the mean values of the hand as well as the foot were determined by averaging the values recorded from both hands and both feet of the 20 subjects. These values were designated as the latency and the amplitude of the hand and foot from R1 to R15. The changes observed in response to the transition in the number of stimulations were statistically evaluated as a gradual decrease in the amplitude. This phenomenon is thought to be a result of learning. On the basis of the 15 consecutive stimulations, a decrease in amplitude to the 7th and 8th stimulations and constancy in the results thereafter was observed, although minor differences in the results were apparent between the hand and foot leads.
Asunto(s)
Habituación Psicofisiológica/fisiología , Piel/inervación , Sistema Nervioso Simpático/fisiología , Adulto , Estimulación Eléctrica , Femenino , Pie/inervación , Mano/inervación , Humanos , Masculino , Persona de Mediana Edad , Tiempo de Reacción , Valores de Referencia , Reproducibilidad de los ResultadosRESUMEN
In a doping test for racing horses, it is useful for the elucidation of the illegal use of drugs if one can estimate the time at which the detected drug was administered. In order to estimate the time which has elapsed after the administration of caffeine (CA) into horses, the ratios of concentration for the respective metabolites to the unchanged CA in the plasma or the urine were determined. These ratios have been known to be independent of the dose of CA. The relationship between [plasma or urinary concentration of a metabolite]/ [plasma or urinary concentration of the unchanged drug] and the post-administration time of CA was expressed in a theoretical equation using pharmacokinetic parameters. When CA was administered at 2.5 mg/kg intravenously, intramuscularly or orally, all of the experimentally observed values of plasma or urinary metabolites: theophylline, theobromine and paraxantine, agreed well with the theoretical formulas, indicating that there exists a theoretical relationship between the post-administration time and the concentration ratio of the respective metabolites to unchanged CA.
Asunto(s)
Cafeína/farmacocinética , Caballos/metabolismo , Detección de Abuso de Sustancias/veterinaria , Animales , Cafeína/sangre , Cafeína/orina , Detección de Abuso de Sustancias/métodos , Teofilina/sangre , Teofilina/orinaRESUMEN
Carnitine palmitoyltransferase II (CPT II) deficiency has two different clinical forms, one with "hepatic" and the other with "muscular" symptoms. We studied the molecular basis of the "hepatic" form in two Japanese siblings. Their CPT II activity in lymphoblasts was reduced to 3% of the level observed in normal controls. cDNA analysis showed that the proband was a compound heterozygote. One allele carried a new mutation, G621-->A (Glu174-->Lys). The other carried three single-base substitutions; a new mutation, T1249-->A (Phe383-->Tyr), and two previously reported polymorphisms. The brother had the same four substitutions. Neither of the two new mutations in this study was detected in the 60 alleles of 30 Japanese control subjects. Secondary structure prediction analysis of the mutated CPT II protein was different from that of the normal protein. We concluded that these mutations caused the "hepatic" form of CPT II deficiency in the probands.
Asunto(s)
Carnitina O-Palmitoiltransferasa/deficiencia , Carnitina O-Palmitoiltransferasa/genética , Hepatopatías/genética , Mutación Puntual , Alelos , Carnitina O-Palmitoiltransferasa/química , Femenino , Heterocigoto , Humanos , Lactante , Masculino , Reacción en Cadena de la Polimerasa , Estructura Secundaria de ProteínaRESUMEN
We have analyzed two unrelated Japanese patients with carbonic anhydrase II deficiency born to consanguineous parents. We have identified the same mutation as that reported to be homozygous in a Belgian family and compound heterozygous in an American family. It comprises to C-to-T transition that results in the amino acid substitution of Tyr (TAT) for His (CAT) at position 107. This point mutation creates an AccI site that can be conveniently screened by the polymerase chain reaction/restriction fragment length polymorphism method using a restriction enzyme for gene tracking. Our patients exhibit severe mental retardation, not seen in the Belgian and American patients.
Asunto(s)
Anhidrasas Carbónicas/deficiencia , Anhidrasas Carbónicas/genética , Enfermedades del Sistema Nervioso Central/genética , Mutación Puntual , Exones/genética , Humanos , Japón , Reacción en Cadena de la PolimerasaAsunto(s)
Riñón/metabolismo , Errores Innatos del Metabolismo/metabolismo , Ácido Metilmalónico/metabolismo , Uremia/metabolismo , Vitamina B 12/uso terapéutico , Preescolar , Femenino , Humanos , Errores Innatos del Metabolismo/sangre , Errores Innatos del Metabolismo/tratamiento farmacológico , Ácido Metilmalónico/sangreRESUMEN
The effects of exercise on the metabolism of caffeine (CA) were studied 3h after administration of the drug to race horses which then underwent exercise sets (1000-m gallop). Analysis was made of pharmacokinetics of CA, changes in its plasma concentrations, its metabolites, i.e., theophylline (TP), theobromine (TB) and paraxanthine (PX), and the molar concentration ratios of CA to these metabolites. After exercise, AUC and t1/2 tended to decrease, and the concentration of CA decreased, while the concentrations of TP and TB significantly increased. The TP/CA ratio and TB/CA ratio significantly increased from 6 to 74h and from 25 to 50h after drug administration, respectively. This indicated promotion of metabolism of CA into TP and TB. The effects on PX were minimal.
Asunto(s)
Cafeína/sangre , Estimulantes del Sistema Nervioso Central/sangre , Caballos/metabolismo , Esfuerzo Físico/fisiología , Animales , Biotransformación , Cafeína/metabolismo , Estimulantes del Sistema Nervioso Central/metabolismo , Cromatografía Líquida de Alta Presión , Femenino , SemividaRESUMEN
The prenatal therapy is described of a patient with vitamin B12-responsive methylmalonic acidaemia during the last 10 days of gestation with oral administration of vitamin B12 (20 mg/day) given to a mother did not normalize her urinary excretion of methylmalonic acid (MMA), which was 14.5 mmol/mol creatinine at 32 weeks of gestation. Before delivery, the mother was excreting 18.9 +/- 3.3 mmol MMA/mol creatinine (mean value at 7 days after vitamin B12 therapy), as well as at 32-37 weeks of gestation with no therapy. After birth, the level of MMA in the infant's urine was remarkably elevated (500-700 mmol/mol creatinine); the level of MMA in maternal urine decreased dramatically after delivery. Compared with two previous reports, the length of administration was not sufficient to reduce maternal MMA excretion. In future, the length of the therapy, route of administration and total dose of vitamin B12 to maintain an efficient level of vitamin B12 in an affected fetus should be considered.
Asunto(s)
Enfermedades Fetales/diagnóstico , Enfermedades Fetales/tratamiento farmacológico , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/tratamiento farmacológico , Ácido Metilmalónico/sangre , Diagnóstico Prenatal , Vitamina B 12/uso terapéutico , Femenino , Enfermedades Fetales/sangre , Humanos , Errores Innatos del Metabolismo/sangre , Ácido Metilmalónico/orina , EmbarazoAsunto(s)
Anhidrasas Carbónicas/deficiencia , Anhidrasas Carbónicas/genética , Acidosis Tubular Renal/genética , Adulto , Encefalopatías/genética , Calcinosis/genética , Anhidrasas Carbónicas/sangre , Células Clonales , Análisis Mutacional de ADN , Exones , Femenino , Humanos , Discapacidad Intelectual/genética , Japón , Mutación , Reacción en Cadena de la Polimerasa , Síndrome , Tirosina/genéticaRESUMEN
Three Japanese patients with carbonic anhydrase II (CAII) deficiency from three families were described. The parents of one patient were unrelated, the parents of each of the other two patients were first cousins. All the patients had renal tubular acidosis, osteopetrosis, symmetrical cerebral calcification and mental retardation. They exhibited poor activity and poor appetite in the neonatal period, and then developed psychomotor retardation. Two of them were diagnosed as having osteopetrosis at 10 months and 36 years of age, respectively, and the other as having osteomalacia at 28 years of age. All patients had recurrent episodes of muscle weakness. The CAII enzyme activity and protein levels in red blood cells in each of the three patients were deficient. Their parents exhibited approximately 50% normal levels of CAII activity and protein. This is the first report of patients with CAII deficiency in the Japanese population.