Características genéticas, poblacionales y fenotípicas de pacientes con enfermedad de Hirschsprung / Genetic, population and phenotypic characterístics of patients with hirschsprung disease

La enfermedad de Hirschsprung (HSCR) está causada por la ausencia de células ganglionares en el intestino, debido a defectos en la migración de las células del sistema nervioso entérico durante el desarrollo embrionario. La incidencia es aproximadamente de uno en cada 5000 nacimientos, más frecuente en hombres que en mujeres. Hay dos fenotipos según la longitud del segmento aganglionar: corto (S-HSCR, 80% de los enfermos) y largo (L-HSCR, el 20%). Se han detectado variaciones en la secuencia codificante del proto-oncogén rEt en enfermos con HCSR, lo que sugiere predisposición genética a padecer la enfermedad. Nuestro trabajo ha consistido en encontrar y analizar polimorfismos (SNPs) asociados a la enfermedad, así como su distribución poblacional (sexo y tipo de segmento). En el estudio genético se han analizado dos polimorfismos presentes en el promotor del gen, así como un polimorfismo en el exón 13 fuertemente asociado con la enfermedad. Como poblaciones en este estudio se establecieron una de enfermos con HSCR esporádico y un grupo de individuos sanos.Los resultados obtenidos corroboran que la enfermedad es más frecuente en hombres que en mujeres. El genotipado de rEt indica que los alelos A y G del promotor (c.-200A>G y c.-196C>A) y G del exón 13 (c.2307T>G) están asociados a la población enferma. Los datos apuntan a que no existe relación entre el fenotipo de la enfermedad y la distribución de los polimorfismos analizados. Concluimos que la presencia de ciertos polimorfismos en la secuencia de rEt indica predisposición genética (combinada con otros factores genéticos o ambientales) a padecer la enfermedad (AU)

Hirschsprung disease (HSCR) is caused by the absence of ganglion cells in the intestine due to defects in the migration of enteric nervous system cells during embryologic development. The incidence is one in every 5000 births, more common in men than women. There are two main phenotypes according to the aganglionic segment length: Short (S-HSCR, (80% of patients) and Long (L-HSCR, 20%). Variations have been detected in the coding sequence of the rEt proto-oncogene in patients with HSCR, suggesting a genetic predisposition to the disease. Our aim is to find and analyze polymorphisms (SNPs) associated with the disease. We are interested also in stablish an association between sex and type of aganglionic segment. We analyzed the rEt promoter as well a polymorphism in exon 13 strongly associated to the disease. The populations for the study were a group of 56 patients with sporadic HSCR and 178 healthy controls.The results obtained show that the disease is more common in men than in women (3:1). The rEt genotype shows that alleles A and G of the promoter (c.-200A> G and c.-196C> A) and G of exon 13 (c.2307T> G) are associated with the affected population. Our data suggest neither association between the disease phenotype and the distribution of the polymorphisms analyzed nor with the sex of the patients. The presence of certain polymorphisms in the rEt sequence indicates a genetic predisposition (combined with other genetic or environmental factors) to the disease (AU)

[Genetic, population and phenotypic characteristics of patients with Hirschsprung disease]. / Características genéticas, poblacionales y fenotípicas de pacientes con enfermedad de Hirschsprung.

Hirschsprung disease (HSCR) is caused by the absence of ganglion cells in the intestine due to defects in the migration of enteric nervous system cells during embryologic development. The incidence is one in every 5000 births, more common in men than women. There are two main phenotypes according to the aganglionic segment length: Short (S-HSCR, (80% of patients) and Long (L-HSCR, 20%). Variations have been detected in the coding sequence of the RET proto-oncogene in patients with HSCR, suggesting a genetic predisposition to the disease. Our aim is to find and analyze polymorphisms (SNPs) associated with the disease. We are interested also in stablish an association between sex and type of aganglionic segment. We analyzed the RET promoter as well a polymorphism in exon 13 strongly associated to the disease. The populations for the study were a group of 56 patients with sporadic HSCR and 178 healthy controls. The results obtained show that the disease is more common in men than in women (3:1). The RET genotype shows that alleles A and G of the promoter (c.-200A > G and c.-196C > A) and G of exon 13 (c.2307T > G) are associated with the affected population. Our data suggest neither association between the disease phenotype and the distribution of the polymorphisms analyzed nor with the sex of the patients. The presence of certain polymorphisms in the RET sequence indicates a genetic predisposition (combined with other genetic or environmental factors) to the disease.

[Nephrogenic adenoma of the urethra. Report of a case]. / Adenoma nefrogénico de uretra. Presentación de un caso.

Nephrogenic adenoma is a benign urothelial neoformation rare in children. It can be present in the entire urinary tract, being more common in the bladder and very infrequent in urethra. These metaplasic changes seem to be due to irritative stimulus to the epithelium, including lithiasis, previous surgery, permanent or repeated catheterization, infective diseases and chemotherapy and or radiotherapy. The diagnosis is established after biopsy and in most of the cases the treatment of choice consists of transurethral resection of the lesion. We report the case of a boy 11 years old who was diagnosed of Nephrogenic adenoma of prostatic urethra after cistoscopy for repetitive urethremorrhagia. The patient was managed conservatively and oral antibiotic therapy was administered being the patient asymptomatic and free of recurrence during the follow up.

[Hypertension secondary to intrarenal aneurysms in childhood]. / Hipertensión secundaria a aneurismas intrarrenales en la infancia.

OBJECTIVES: Arterial hypertension due to renovascular dysfunction is uncommon in children. The most common cause is stenosis of the renal artery and, rarely, aneurysm of secondary arteries. The present case underscores the therapeutic difficulties. Treatment must be based on the clinical symptoms, location, size, number and etiology of these vascular malformations. METHOD/RESULTS: We describe a 4-year-old patient with secondary arterial hypertension arising from several aneurysms in the primary and secondary arterial branches of the right kidney that had been diagnosed by arteriography. After medical treatment had failed, the patient underwent a right nephrectomy since local or conservative procedures could not be done. CONCLUSIONS: It is widely advocated in the literature that patients with medically refractory arterial hypertension warrant surgical treatment. The type of surgery will depend on the location and the characteristics of the lesion.

[Intravesical foreign body caused arising from ureterostomy protective resin-gum]. / Cuerpo extraño intravesical producido por resina-goma protectora de ureterostomía.

OBJECTIVES: Bladder foreign bodies can arise from many factors and are iatrogenic in a high percentage. A case of intravesical foreign body from accumulated fragments of synthetic gum utilized to protect the ureterostomy is described. These problems can be avoided by correct management of the osteotomy and must therefore be emphasized to those responsible for the patient's care. METHODS/RESULTS: A case of a 7-year-old patient with chronic nephropathy and a bilateral high-loop ureterostomy is described. The migration and subsequent condensation of small fragments of the material protecting the ureterostomy led to the formation of a foreign body which took the shape of the bladder. Treatment was by vesicostomy. CONCLUSION: The possible complications arising from the passage of objects from outside into the urinary tract should always be taken into account in patients with an external urinary diversion.

Nefropatías atípicas como causa de nefrectomías en la edad pediátrica / Atypical nephropaties leading to nephrectomy in children

El porcentaje de unidades renales que deben ser extirpadas en la edad pediátrica ha disminuido, gracias al desarrollo de técnicas de diagnóstico precoz y a la aparición de tratamientos quirúrgicos alternativos como la cirugía de banco, las embolizaciones selectivas y el gran avance de la edoscopía renal.Sin embargo un cierto número de patologías nefrourológicas no tienen otra alternativa que la nefrectomía para eliminar el riesgo vital que suponen para el enfermo.Se presentan tres nefropatías, atípicas en la edad pediátrica,cuya evolución obligó a la extirpación del riñón patológico.Se trataba de una pielonefritis xantogranulomatosa que afectaba todo el riñón derecho una hematuria esencial de evolución maligna cuyo diagnóstico etiológico no pudo ser establecido,incluso en el estudio histopatológico y una hipertención secundaria a múltiples anuerismas intrarenales localizados exclusivamente en el riñón derecho

Nefropatías atípicas como causa de nefrectomías en la edad pediátrica / Atypical nephropaties leading to nephrectomy in children

El porcentaje de unidades renales que deben ser extirpadas en la edad pediátrica ha disminuido, gracias al desarrollo de técnicas de diagnóstico precoz y a la aparición de tratamientos quirúrgicos alternativos como la cirugía de banco, las embolizaciones selectivas y el gran avance de la edoscopía renal.Sin embargo un cierto número de patologías nefrourológicas no tienen otra alternativa que la nefrectomía para eliminar el riesgo vital que suponen para el enfermo.Se presentan tres nefropatías, atípicas en la edad pediátrica,cuya evolución obligó a la extirpación del riñón patológico.Se trataba de una pielonefritis xantogranulomatosa que afectaba todo el riñón derecho una hematuria esencial de evolución maligna cuyo diagnóstico etiológico no pudo ser establecido,incluso en el estudio histopatológico y una hipertención secundaria a múltiples anuerismas intrarenales localizados exclusivamente en el riñón derecho

[Latex allergy in children with spina bifida]. / Alergia al látex en niños con espina bífida.

Latex allergy is a frequent happening in children with spina bifida or congenital urologic abnormalities. These patients have multiples exposures to derivatives of latex as part of the management increasing the risk of allergic reactions. We present three children who developed general anaphylactic reaction during urodynamic exploration with a rectal latex catheter. All patients showed positive skin test and positive latex specific IgE test (RAST). A prospective survey of 17 patients with spina bifida at the time of cystometry showed positive RAST levels in 7 (41%). Recommendations for prophylaxis are included, suggesting the avoidance of latex products in children with spina bifida since birth.

[Poisoning by viper bites in children]. / Intoxicación por mordedura de víbora en niños.

Our experience with 36 cases of adder bites, collected during 13 years (1976-1989), is presented. The severity of the clinical picture was minimal to moderate in most of the cases, with mainly local symptomatology noted. Only 4 of the cases had symptoms such as vomiting and abdominal pain. Good results wee obtain in all cases with the prescribed medical treatment, except in one case which had partial necrosis of the skin on one finger on the side of viper bite. Antibiotics were used in all cases except three and anti-tetanus therapy was used in those cases where needed. Corticosteroids and antihistamines were used on selected occasions. We recommend the use of antiofidic serum, although the possibilities of anaphylactic reaction must be noted. We do not recommended local incisions and suction for this type of bites.