Esquistosomiasis urinaria como causa de macrohematuria / Urinary schistosomiasis as a cause of macrohematuria

Introducción. La esquistosomiamsis es una parasitosis típicamente tropical pero, dado el aumento en el número de inmigrantes y el aumento del turismo a estas zonas, debe ser tendía en cuenta como enfermedad emergente. Objetivos. Presentar los casos clínicos atendidos en nuestro centro y actualizar la literatura existente. Material y métodos. Estudio de los pacientes diagnosticados en nuestro centro en los últimos dos años, recogiendo datos clínicos, analíticos, pruebas de imagen, diagnóstico de confirmación y tratamiento administrado. Resultados. Hemos atendido a 6 pacientes con esquistosomiasis urinaria. Todos eran varones procedentes de África y presentaban hematuria macroscópica. En la analítica destaca eosinofilia periférica. En todos se aisló Esquistosoma haematobium y fueron tratados con praziquan el vía oral, obteniendo curación en todos los casos. Conclusiones. En el diagnostico diferencial de hematuria macroscópica en paciente procedente de África debe incluirse la esquistosomiasis urinaria. La ecografía vesical muestra generalmente un engrosamiento de la pared (AU)

Introduction. Squistosomiasis is a typically tropical parasitosis, but in view of the increase in the number of immigrants of this one zone to our country and the increase of the tourism to these zones, must be born clinical situations in mind as emergent. Objective. To report the cases treated at our centre and comment the literature current in these moment. Material and method. We report all patient diagnosed in our centre in the last two years, gathering information about clinical features, image and diagnosis of confirmation, as well as the administered treatment. Result. In the last 2 years 6 patients have been diagnosed. All of them presented macroscospic hematuria minimum 1 month of evolution. They all were males proceeding form Africa. In all of them Squistosoma haematobium was isolated. All the cases were treated by praziquantel oral route, obtaining resolution in all of them. Conclusions. In the differential diagnosis of macrocospic hematuria in patient proceeding from Africa, urinary esquistosomiasis must be included. The vesical ultrasound scan usually shows a bladder thickening (AU)

Hiponatremia por pérdida renal de sal en paciente con diabetes insípida central / Hyponatremia due to renal salt wasting in a patient with partial central diabetes insipidus

La hiponatremia en el contexto de una diabetes insípida suele corresponder a un exceso en el uso de desmopresina; sin embargo, existen otras posibilidades. Se presenta el caso de un lactante de 18 meses, remitido por un cuadro de 2 meses de evolución de poliuria, polidipsia y pérdida ponderal. Los antecedentes, exploración física y exploraciones complementarias, incluida neuroimagen, eran normales, salvo la presencia de una poliuria hiposmolar de 3 litros que, tras dieta seca y administración de hormona antidiurética (ADH), se catalogó de diabetes insípida central parcial. Se inició tratamiento con desmopresina intranasal. Seis meses más tarde, ingresó en UCI por un cuadro de deshidratación hiponatrémica grave (sodio de 108 mEq/L), convulsiones y poliuria con fracción de excreción de sodio de 3 mL/100 mL de filtrado glomerular. Un mes más tarde, presentó otro cuadro similar, por lo que se inició la administración de sal por vía oral. A los cuatro meses, la poliuria-polidipsia mejoró. Ante la mejoría clinicoanalítica, se suspendió el tratamiento. El paciente permanece asintomático un año más tarde. El síndrome cerebral pierde sal se caracteriza por diuresis y natriuresis elevadas, hiponatremia y depleción del espacio extravascular. En su patogénesis, se baraja la acción de distintos péptidos natriuréticos; su desencadenante no es siempre una enfermedad intracraneal. En el caso descrito, se dudó de si se trataba de una verdadera diabetes insípida central parcial transitoria o bien de una polidipsia-poliuria primaria que desarrolló, posteriormente, un síndrome pierde sal por desajuste en el eje ADH-péptidos natriuréticos

Hyponatremia in association with diabetes insipidus usually corresponds to an overdose of desmopressin; nevertheless, there are other possibilities. We present the case of an 18-month-old boy who was referred to us with a 2-month history of polyuria, polydipsia and weight loss. His medical record and the results of physical examination and additional tests, including neuroimaging, were normal, except for the presence of hypo-osmolar polyuria (3 L). After dry diet and the administration of antidiuretic hormone (ADH), he was diagnosed as having partial central diabetes insipidus, and intranasal desmopressin therapy was begun. Six months later, he was admitted to the intensive care unit with severe dehydration associated with hyponatremia (Na: 108 mEq/L), seizures and polyuria, with fractional excretion of sodium of 3 mL/100 mL glomerular filtration rate (GFR). One month later, he presented a similar episode and oral salt supplementation was begun. Four months later, his polyuria and polydipsia had improved. Given the clinical and analytical improvement, the treatment was discontinued and the child remains asymptomatic one year later. Cerebral salt-wasting syndrome is characterized by marked diuresis and natriuresis, in the presence of hyponatremia and depletion of the extravascular space. Its pathogenesis has been attributed to the action of different natriuretic peptides, and it is not always triggered by an intracranial disease. In our case, we questioned whether the patient presented true transient partial central diabetes insipidus or, in contrast, primary polydipsia-polyuria with subsequent development of salt-wasting syndrome due to an imbalance in the ADH-natriuretic peptide axis

[Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities]. / Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis y asociación con alteraciones oculares.

BACKGROUND: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an unusual disease that usually leads to end-stage renal failure. There is no specific treatment and, to a variable degree, patients with this disease present ocular abnormalities. The illness is due to a defect in the reabsorption of magnesium and calcium at the thick ascending limb of Henle because of a mutation of the PCLN-1 gene, which encodes a protein, paracellin-1, which intervenes in the reabsorption of both cations. OBJECTIVE: To review outcome and the incidence of ocular abnormalities in our patients and in cases described in Spain and to compare the incidence found with that in groups from other countries. METHOD: Retrospective study of a group of patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis diagnosed at a hospital. RESULTS: There were six girls and three boys with clinical symptoms of polyuria, polydipsia, and less frequently, urinary tract infections and lithiasis. All had hypomagnesemia, hypercalciuria and nephrocalcinosis. Five of the patients had renal failure at diagnosis and four underwent transplantation without recurrence. Eight patients had diverse ocular abnormalities. Eighty-one percent of Spanish patients had ocular abnormalities compared with 24 % of those from other countries. There was no evidence of successful medical treatment. CONCLUSIONS: Almost half of the patients presented chronic renal failure at diagnosis and most of the patients reached end-stage renal failure in the second or third decade of life. Normal glomerular filtration rate was found only in patients diagnosed at an early age. The most frequent extra-renal association in Spanish patients (81 %) corresponded to ocular abnormalities. Effective treatment consists of kidney transplantation that completely corrects the tubular disorder.

Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis y asociación con alteraciones oculares / Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Association with ocular abnormalities

Antecedentes: La hipomagnesemia familiar con hipercalciuria y nefrocalcinosis es una enfermedad rara que sin tratamiento específico suele conducir a insuficiencia renal terminal y que en grado variable presenta alteraciones oculares. La enfermedad se debe a un defecto en la reabsorción de magnesio y calcio en el segmento grueso de la rama ascendente del asa de Henle debido a una mutación del gen PCLN1, que codifica una proteína, la paracelina-1, que interviene en la reabsorción de ambos cationes. Objetivo: Revisar la evolución clínica de nuestros pacientes y la incidencia de anomalías oculares en nuestros casos y en los casos descritos procedentes de España, comparándola con grupos de otros países. Método: Estudio retrospectivo de un grupo de pacientes con esta enfermedad diagnosticados en un hospital. Resultados: Se presentan 6 niñas y 3 niños con síntomas de poliuria, polidipsia y en menor frecuencia infección del tracto urinario y litiasis. Todos tenían hipomagnesemia, hipercalciuria y nefrocalcinosis. Cinco presentaban insuficiencia renal al ser diagnosticados y cuatro fueron trasplantados sin presentar recidiva de su enfermedad. Ocho presentaban anomalías oculares diversas. El 81 por ciento de los pacientes españoles presentaron anomalías oculares frente al 24 por ciento de otros países. No existe evidencia de tratamiento eficaz. Conclusiones: Casi la mitad de los casos presentaron insuficiencia renal crónica en el momento del diagnóstico y la mayoría de los pacientes alcanzan la insuficiencia renal terminal en la segunda o tercera década de la vida. Sólo los casos de diagnóstico en edades tempranas tenían un filtrado glomerular normal. La asociación extrarrenal más frecuente en pacientes españoles (81 por ciento) corresponde a alteraciones oculares. El tratamiento efectivo es el trasplante renal, que corrige completamente el trastorno tubular. (AU)

[Ambulatory monitoring of arterial pressure in a group of children with reflux nephropathy of different degrees]. / Monitorización ambulatoria de la presión arterial en un grupo de niños con nefropatía por reflujo de diferente grado.

OBJECTIVE: The purpose of this study was to search for risk factors for the evolution reflux nephropathy by comparing the results of the ambulatory blood pressures in a group of children with reflux nephropathy of different degrees. PATIENTS AND METHODS: Out-patient blood pressure monitoring was performed in 31 children (15 males and 15 females) affected to different degrees by reflux nephropathy. This was done during a 24-hour period on a normal schoolday by using a Spacelabs 90207 oscilometric monitor. An appropriately sized armband was chosen for each case with the readings being programmed for every 20 minutes between 8:00 a.m. and 23:00 p.m. and every 30 minutes for the remaining readings. The mean blood pressure, blood pressure load and hyperbaric index over the 24 hour period (on all the readings obtained), activity period (0800 to 2200 hours) and the resting period (midnight to 6:00 a.m.) were calculated. The circadian variability (difference and ratio between the mean values of active and resting periods and the nocturnal fall in blood pressure as a percentage of the daytime mean value) was also determined. The children were classified into subgroups according to their degree of reflux nephropathy: Group 1) Degrees A and B of unilateral reflux nephropathy. Group 2) Degrees C and D of unilateral reflux nephropathy and Group 3) Bilateral nephropathy. Those monitorings with a percentage of erroneous readings over 30% were excluded. RESULTS: Two children were excluded because of a high percentage of erroneous readings. We could not find any significant difference among the three groups in casual blood pressure. We observed significant differences between the group formed by children with unilateral reflux nephropathy and children with bilateral reflux nephropathy in the blood pressure during the resting period. No significant differences were found among the three groups in the tensional load, hyperbaric index or the variables that determine the nightly descent in blood pressure. CONCLUSIONS: Ambulatory blood pressure monitoring allow the detection of risk factors for the evolution of reflux nephropathy; i.e., higher risk of blood pressure elevation, especially during the resting period and mainly for bilateral reflux nephropathy.

[Beckwith-Wiedemann syndrome: study of eleven cases]. / Síndrome de Beckwith-Wiedemann: estudio de once casos.

In this paper we report a review of the omphalic pathology that was admitted to our hospital from january 1973 through december 1990. Eleven cases of Beckwith-Wiedemann Syndrome were diagnosed during this period of time. Our eleven cases comply with at least three of the four major criteria (omphalocele, macroglossia, gigantism and neonatal hypoglycemia) and several of the minor criteria. The interest of this paper is based on the rareness of this syndrome and its association in two of our cases with Cacchi-Ricci Syndrome. Moreover, one of these cases later presented with a Wilms' tumor. Finally, we emphasize the importance of an early diagnosis of this syndrome in order to avoid the metabolic disturbances (hypoglycemia), to establish prompt treatment of the serious anomalies (omphalocele) and to control and follow these patients since they have increased risk to develop neoplastic disease.

[Eosinophilic cystitis]. / Cistitis eosinofílica.

We report two cases of eosinophilic cystitis in children of 11 months and 11 and a half year of age respectively. The presenting symptoms were the emision of mucosanguinolent filaments in the urine in one case and with lower urinary tract symptoms and macroscopic hematuria in the other. Physical examination revealed in one of them a round, tough and painful mass in the hypogastric area. In one case we found peripheral blood eosinophilia. They both showed in the Urinalysis albuminuria, pyuria and hematuria, with the presence of eosinophils in one of them. Macroscopic examination presented in the two cases a tumoral, mamelonne mass in the wall of the bladded. The diagnosis was anatomopathologic due to the demonstration of an inflammatory infiltration, primarily of eosinophils. The clinical course was unfavourable in the case an hemicystectomy was practicated and self-limited in the one only symptomatic treatment was used.

[Prune-belly syndrome in a female]. / Síndrome de "prune-belly", femenino.

Authors describe a case of newborn whose malformations of genitourinary tract of abdominal muscles deficiency and renal dysplasia make it very compatible with Prune-Belly Syndrome. The case it is exceptionally interesting because it is a female subject; and on the other hand because of its' associated malformations. The so debated pathogenic of the Syndrome is commented.

[Xanthine lithiasis in a case of Lesch-Nyhan syndrome treated with allopurinol]. / Litiasis xantínica en un caso de síndrome de Lesch-Nyham tratado con allopurinol.

Classically it is considered that vital prognosis of Lesch-Nyhan syndrome depends on renal affectation secondary to uric nephropathy. A case of Lesch-Nyhan syndrome treated with Allopurinol is described which presented multiple and bilateral renal stones by precipitation of xanthine. Treatment with Allopurinol inhibits the formation of uric acid and qualitatively renal excretion of oxypurines modifies. In special circumstances (disminution of urinary output and pH), they can precipitate and originate a radiotransparent lithiasis with uric lithiasis. Interest of this case, lies in being alert to possible xanthine stone formation in patients with a large excretion of purinics metabolites, who are treated with Allopurinol.

[Chronic renal insufficiency secondary to infectious mononucleosis]. / Insuficiencia renal crónica secundaria a mononucleosis infecciosa.

This report describes the first pediatric case of chronic renal failure as a complication of infectious mononucleosis in a 3 1/2 year old girl. The clinical features were marked at onset by proteinuria and later by nephrotic syndrome. The evolution to chronic renal failure took about two years. In the renal biopsy, lesions characteristic of interstitial nephritis were observed, associated with focal and segmental glomeruloesclerosis and deposits of C3 in granular and discontinued form. Renal participation in infectious mononucleosis is not unusual and fundamentally it is manifested by proteinuria and abnormalities of urinary sediment, with interstitial nephritis as a characteristic lesion in the renal biopsy.

[Marshall-Smith syndrome. Apropos of a personal case]. / El síndrome de Marshall-Smith. A propósito de una observación personal.

The first familial observation of the Marshall-Smith syndrome is showed. The propositi are a male and female relatives with a double consanguinity and whose family comes from a small area with a high rate of inbreeding. According to this hypothesis autosomal recessive inheritance for this syndrome is proposed as very suggestive. These two new cases seem to prove that the mental retardation may not be a typical clinic features and that survival of the cases longer that expected may be considered. One of our patients is a three years old female and the other one is nearly eleven years old male. The syndrome delineation is given by very closely homogeneous patterns. Said patterns also single it out from the Weaver syndrome.

[Subacute necrotizing encephalomielopathy. Leigh syndrome (author's transl)]. / Encefalomielopatía necrotizante subaguda. Síndrome de Leigh. A propósito de una observación.

A 6-month-old girl with familiar history of two dead sisters few months old, was admitted to the Hospital with a neurological process. After her admission progressively worsened until her death. The patient had clinical manifestation of proximal tubular acidosis. Levels of lactic and piruvic acid were normal. Necropsic study was compatible with the diagnoses of subacute necrotizing encephalomielopathy of Leigh syndrome.