Health-related quality of life of X-linked hypophosphatemia in Spain.

BACKGROUND: Health-related quality of life (HRQoL) of patients with X-linked hypophosphatemia (XLH) is lower than that of both the general population and the patients with other chronic diseases, mainly due to diagnostic delay, treatment difficulties, poor psychosocial support, and problems with social integration. Early diagnosis and optimal treatment are paramount to control the disease in patients with XLH, avoid complications, and maintain or improve their HRQoL. We, therefore, analyzed the HRQoL of pediatric and adult patients with XLH treated with conventional therapy in Spain. RESULTS: We used several versions of the EuroQol-5 dimensions (EQ-5D) instrument according to the age of patients with XLH. Then we compared the HRQoL of patients to that of the general Spanish population. Children with XLH (n = 21) had moderate problems in walking about (61.9%), washing or dressing themselves (9.52%), and performing their usual activities (33.33%). They also felt moderate pain or discomfort (61.9%) and were moderately anxious or depressed (23.81%). Adults with XLH (n = 29) had lower HRQoL, with problems in walking (93%, with 3.45% unable to walk independently), some level of pain (86%, with 3.45% experiencing extreme pain), problems with their usual activities (80%) and self-care (> 50%), and reported symptoms of anxiety and/or depression (65%). There were important differences with the general Spanish population. CONCLUSIONS: XLH impacts negatively on physical functioning and HRQoL of patients. In Spanish patients with XLH, the HRQoL was reduced despite conventional treatment, clearly indicating the need to improve the therapeutic approach to this disorder.

X-linked hypophosphatemia (XLH) is a severe inherited disease. It is caused by loss of phosphorus by kidneys. As a result, blood level of phosphorus is low, affectingX-linked hypophosphatemia (XLH) is a severe inherited disease. It is caused by loss of phosphorus by kidneys. As a result, blood level of phosphorus is low, affecting bones and muscles. Patients can have growth retardation, short stature, rickets, limb deformities, pain and other health problems despite traditional treatment. Consequently, their quality of life can be very bad. However, a recently available new treatment (burosumab) can improve this quality of life. We studied the quality of life of children and adults with XLH treated with traditional treatment in Spain. Results showed that children had moderate problems, but adults reported moderate-to-severe problems in walking and performing their usual activities and self-care. Pain and anxiety and/or depression were very frequent. There were important differences with the general Spanish population. Moreover, we also found that XLH is associated to high healthcare cost and even higher socioeconomic cost. Our results highlight the need of improving the treatment of XLH.bones and muscles. Patients can have growth retardation, short stature, rickets, limb deformities, pain and other health problems despite traditional treatment. Consequently, their quality of life can be very bad. However, a recently available new treatment (burosumab) can improve this quality of life. We studied the quality of life of children and adults with XLH treated with traditional treatment in Spain. Results showed that children had moderate problems, but adults reported moderate-to-severe problems in walking and performing their usual activities and self-care. Pain and anxiety and/or depression were very frequent. There were important differences with the general Spanish population. Moreover, we also found that XLH is associated to high healthcare cost and even higher socioeconomic cost. Our results highlight the need of improving the treatment of XLH.

Effect of 6 weeks of whole body vibration training on total and segmental body composition in healthy young adults.

The applied use of new technologies to enhance performance and improve health has been increasing. Initially, whole body vibration training (WBVT) was used as system to improve elite athlete performance. However, this is also used to improve body composition, especially there is a great attention on the effectiveness of WBVT to reduce fat and body weight, with a potential increase in muscle tissue. The aim of this study was to investigate the effects of a 6-week vibration-training program on total and segmental body composition in a group of physically healthy participants. The final study sample included 64 healthy young adults. Subjects were randomly allocated into the control group (CG: n = 26; 16 males and 10 females) and the experimental group (EGWBVT: n = 38; 19 males and 19 females). The program lasted six weeks with a frequency of three sessions per week and each session varied in intensity. There were not found statistically significant differences in any of the body composition variables analysed. This study suggests that a six-week vibration-training program with an increasing intensity (7.2 g-32.6 g) in healthy young adults that are not overweight did not alter total and segmental body composition.

fMRI brain response during sentence reading comprehension in children with benign epilepsy with centro-temporal spikes.

INTRODUCTION: Children with benign epilepsy with centro-temporal spikes (BECTS) often have language problems. Abnormal epileptic activity is found in central and temporal brain regions, which are involved in reading and semantic and syntactic comprehension. Using functional magnetic resonance imaging (fMRI), we examined reading networks in BECTS children with a new sentence reading comprehension task involving semantic and syntactic processing. METHOD: Fifteen children with BECTS (age=11y 1m ± 16 m; 12 boys) and 18 healthy controls (age=11 y 8m ± 20 m; 11 boys) performed an fMRI reading comprehension task in which they read a pair of syntactically complex sentences and decided whether the target sentence (the second sentence in the pair) was true or false with respect to the first sentence. All children also underwent an exhaustive neuropsychological assessment. RESULTS: We demonstrated weaknesses in several cognitive domains in BECTS children. During the sentence reading fMRI task, left inferior frontal regions and bilateral temporal areas were activated in BECTS children and healthy controls. However, additional brain regions such as the left hippocampus and precuneus were activated in BECTS children. Moreover, specific activation was found in the left caudate and putamen in BECTS children but not in healthy controls. Cognitive results and accuracy during the fMRI task were associated with specific brain activation patterns. CONCLUSION: BECTS children recruited a wider network to perform the fMRI sentence reading comprehension task, with specific activation in the left dorsal striatum. BECTS cognitive performance differently predicted functional activation in frontal and temporal regions compared to controls, suggesting differences in brain network organisation that contribute to reading comprehension.

Síndrome nefrótico idiopático en el niño / Primary nephrotic syndrome in children

El síndrome nefrótico idiopático (SNI) es responsable de más del 80% de los síndromes nefróticos en la infancia y de un 20-25% en los adultos. Aun cuando puede presentarse a cualquier edad es una enfermedad típicamente pediátrica cuya mayor frecuencia de aparición se sitúa entre los 2-6 años y con mayor incidencia en el genero masculino. Dentro del síndrome nefrótico infantil debemos considerar de forma diferencial el que aparece en el primer año de vida. Igualmente, en el momento actual, los conocimientos genéticos identifican otras formas (que excluiríamos de la denominación SNI) las formas genéticas, ligadas a daños estructurales de los podocitos. En pediatría se define síndrome nefrótico una proteinuria superior a 40 mg/m2/hora con albúmina plasmática inferior a 2,5 g/dl. La histología subyacente en el SNI es mayoritariamente las lesiones mínimas, 76,6% en el Estudio Internacional de Enfermedades Renales en el niño (ISKDC). Otras variantes histológicas menos frecuentes, son la glomerulonefritis segmentaria y focal y la glomerulonefritis mesangial difusa, sin depósitos o con depósitos focales o difusos de IgM, no reconocida universalmente como entidad diferenciada por ser considerada por algunas escuelas como una variante de las lesiones mínimas. En niños, el SNI se caracteriza por su buena respuesta al tratamiento, alta tendencia a las recidivas y buen pronóstico final sin deterioro de la función renal. Siendo el curso de la enfermedad habitualmente prolongado, con mayor o menor número de recaídas, la elección del esquema terapéutico con corticoides y/o inmunosupresores deben plantearse con unos objetivos básicos: 1) Inducción lo más rápidamente posible de la remisión. 2) Prevención de las recaídas y 3) Evitar la iatrogenia farmacológica inducida por la inmunosupresión. Los corticoides siguen siendo el tratamiento de elección sin que se haya esclarecido su mecanismo de acción. Los protocolos empleados son múltiples y los únicos con alta evidencia son: la respuesta a los corticoides y la respuesta a la ciclofosfamida o clorambucil para modificar la corticodependencia en los casos que evolucionan de esta forma. El tratamiento inicial del SNI será: Prednisona 60 mg/m2/día 4-6 semanas, seguido de prednisona 40 mg/m2/48 h durante 4-6 semanas con supresión progresiva en 6 semanas (tabla I). El tratamiento de la recaída: 60 mg/m2/día hasta la desaparición de la proteinuria (Albustix negativo o indicios) durante 5 días consecutivos, seguido de prednisona 40 mg/m2/48 h durante 4-6 semanas y supresión en 6 semanas (tabla II). El tratamiento del SNI corticodependiente o corticorresistente (definición en texto) se recoge en las figuras 1 y 2. 33 Ante la falta de niveles altos de evidencia en el tratamiento de estas formas evolutivas, el esquema propuesto es solo recomendado, pudiendo ser aceptables otras alternativas terapéuticas. Junto al tratamiento de base: corticoides y/o inmunosupresores, debemos considerar el tratamiento general: dieta normocalórica y normoproteica, adecuada a la edad. No profilaxis antibiótica. Administración de vacunas cumpliendo el calendario vacunal completo y vacunación de varicela, neumococo y gripe. Aporte de calcio y vit. D. El tratamiento del edema será la restricción de sodio, no de agua, administrando seroalbúmina solo en situaciones especiales como hipovolemia sintomática o edema incapacitante. Consideración específica debe tenerse a las formas genéticas: NPHS1, NPHS2 y WT1 y a los síndromes nefróticos de comienzo durante el primer año de vida, por ser distinto el planteamiento dado su resistencia al tratamiento. En el SNI del niño dado el predominio de lesiones mínimas y corticosensibilidad, no está indicado proceder a una biopsia renal al inicio de la enfermedad sino instaurar un tratamiento esteroideo, realizándose la biopsia con criterios distintos según grupos, aun cuando existe unanimidad en realizarla en el síndrome nefrótico corticorresistente, en los de comienzo dentro del primer año de vida y en los casos con datos clínicos y/o analíticos que sugieran ser formas secundarias a una enfermedad sistémica. Dentro del primer año de vida tienen su manifestación la mayor parte de las formas genéticas; destacando el síndrome nefrótico finlandés (SNF), la esclerosis mesangial difusa aislada o asociada a otras anomalías y las infrecuentes causas infecciosas, aunque también puede observarse histología de lesiones mínimas, mesangial o membranosa más raramente. Por último es de señalar la posibilidad de recidiva postrasplante en las formas corticorresistentes, específicamente la esclerosis segmentaria y focal, con alto índice de recidivas, oscilando en las distintas series entre 10-80%, de tratamiento difícil, sin nivel de evidencia, y repercusión negativa en la evolución del injerto. Algunas formas genéticas, síndrome nefrótico finlandés o esclerosis segmentaria y focal en su forma genética también puede mostrar recidiva postrasplante aunque con menor frecuencia

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Mycophenolate mofetil in steroid/cyclosporine-dependent/resistant nephrotic syndrome.

Attempts to minimize the effects of prolonged steroid use in steroid-dependent nephrotic syndrome (SDNS) and the need to overcome steroid resistance (SRNS) justifies immunosuppressant therapy. We report our experience in a cohort of patients with SD/SRNS during the administration of mycophenolate mofetil (MMF) in a prospective protocol initiated in January 2001. Twenty-six children with idiopathic nephrotic syndrome were included (21 steroid dependent and 5 steroid resistant), whose response did not change after sequential treatment with cyclophosphamide (CPM) and cyclosporine (CsA). Histopathologic patterns were: 11 minimal change disease (MCD), 1 diffuse mesangial proliferation (DMP), 13 focal segmental glomerulosclerosis (FSGS) and membranous 1 glomerulonephritis (MGN). The median age of onset of NS was 2.8 years (range 1.2-12.5), and treatment with MMF was performed at a median age of 11.4 years (range 5-17) with an initial dose of 600 mg/m(2)/12 h, adjusted to maintain levels of mycophenolic acid (MPA) at 2.5-5 mcg/ml. The planned duration of study to assess treatment efficacy was 6 months. The mean MMF dose required was 624 (SD=136) mg/m(2)/12 h (range 415-970), which maintained mean C(0)-MPA levels of 2.9 (SD=1.17) mcg/ml (range 1.2-5.9 mcg/ml). In the five patients with SRNS, only one achieved complete remission. In the patients with SDNS, steroid sparing was achieved in 15 and 9 remained in remission on MMF monotherapy. Withdrawal of MMF resulted in immediate relapse in 47%. In our study, MMF was a useful immunosuppressant due to its fewer undesirable effects and similar efficacy to other drugs used. It appears effective for the maintenance of remission in SDNS patients, with a response similar to that of CsA.

[Left renal vein hypertension syndrome]. / Síndrome de hipertensión vena renal izquierda.

INTRODUCTION: [corrected] Left renal vein compression, causing retrograde hypertension, determines a syndrome characterized by the presence of hematuria, gonadal vein dilatation and varicocele. Being a rare cause of hematuria its aetiology is diverse but of precise characteristics. Diagnosis is not easy and treatment requires to rule out its precise aetiology and consider the intensity of the compression phenomenon because of interventionist attitudes have important implications and are not risk free. MATERIAL AND METHODS: We report nine children, aged 8-15 years, presenting with hematuria of urologic characteristics. Diagnosis of left renal vein hypertension or nutcracker phenomenon was established through ultrasound (regular and doppler-ultrasound) and helical-TC performed in all, and left renal venography performed in six of them. RESULTS: Retroaortic renal vein was present in two cases, a varicose accessorial renal vein due to anomalous drainage in one and compression at the aortomesenteric space in six. Because of the symptoms severity therapeutic attitude was interventionist in two cases, performing an auto-transplantation in one, and endovascular stent placement al the level of the left renal vein compression in other. CONCLUSIONS: Diagnosis of this syndrome is not always easy because less invasive explorations usually show parameters that are difficult to distinguish from normality. Severity of clinical manifestations and therapeutic attitude are related with the presence of renal vein hyperpressure and collateral varicose circulation indicating the lack of compensation of a difficult drainage.

Síndrome de hipertensión vena renal izquierda / Left renal vein hypertension syndrome

Introducción: La compresión de la vena renal izquierda (VRI), a partir de la hiperpresiónretrógrada que provoca, define un síndrome caracterizado por hematuria,dilatación de vena gonadal y varicocele. De etiología variada pero de característicasconcretas, es una causa infrecuente de hematuria, de diagnóstico difícil y cuyo tratamientorequiere tanto una concreción etiológica como la valoración de la intensidaddel fenómeno de compresión. Todo ello, por las imbricaciones que pueden suponeren actitudes intervencionistas no siempre exentas de riesgos.Material y métodos: Se aportan nueve niños, con hematuria de características urológicasy de edad al inicio de la sintomatología de 8-15 años. En todos se realizó ecografíamodo B y doppler color en siete, con TAC helicoidal en todos y en seis de ellosvenografia renal selectiva, estableciendo el diagnóstico de síndrome de hipertensiónde vena renal izquierda (HVRI) o fenómeno de «cascanueces».Resultados: El diagnóstico fue de vena renal retroaórtica en dos casos, vena renalaccesoria varicosa por drenaje anómalo en uno y de compresión a nivel del espacioaorto-mesentérico en los seis restantes. La actitud terapéutica, intervencionista en doscasos ante su importante repercusión clínica, consistió en un autotrasplante renal y lacolocación de un stent a nivel de la zona de compresión en la VRI.Conclusiones: El diagnóstico del síndrome no siempre es fácil ya que las exploracionesmenos invasivas reflejan con frecuencia patrones en los que es difícil precisar ellímite de normalidad. La intensidad de las manifestaciones clínicas y con ello la actitudterapéutica está en relación a la existencia de circulación colateral varicosa y a lahiperpresión venosa renal, como indicadores de una falta de compensación de la dificultadde drenaje

Introduction: Left renal vein compression, causing retrograde hypertension, determinesa syndrome characterized by the presence of hematuria, gonadal vein dilatation and varicocele. Being a rare cause of hematuria its aetiology is diverse but of precisecharacteristics. Diagnosis is not easy and treatment requires to rule out its preciseaetiology and consider the intensity of the compression phenomenon because ofinterventionist attitudes have important implications and are not risk free.Material y methods: We report nine children, aged 8-15 years, presenting withhematuria of urologic characteristics. Diagnosis of left renal vein hypertension or nutcrackerphenomenon was established through ultrasound (regular and doppler-ultrasound)and helical-TC performed in all, and left renal venography performed in six ofthem.Results: Retroaortic renal vein was present in two cases, a varicose accessorialrenal vein due to anomalous drainage in one and compression at the aortomesentericspace in six. Because of the symptoms severity therapeutic attitude was interventionistin two cases, performing an auto-transplantation in one, and endovascular stent placemental the level of the left renal vein compression in other.Conclusions: Diagnosis of this syndrome is not always easy because less invasiveexplorations usually show parameters that are difficult to distinguish from normality.Severity of clinical manifestations and therapeutic attitude are related with the presenceof renal vein hyperpressure and collateral varicose circulation indicating the lack ofcompensation of a difficult drainage

Renal transplantation in children with severe bladder dysfunction.

PURPOSE: Renal transplantation in children with bladder dysfunction carries a risk for the renal graft. We report our experience with transplantation in 15 patients 6 to 18 years old with severe abnormalities of the lower urinary tract. MATERIALS AND METHODS: A total of 18 renal transplants were performed in 15 children with bladder dysfunction secondary to myelomeningocele (3), occult spina bifida (1), malformation/agenesis of the sacrum (5), posterior urethral valves (4), female hypospadias (1) and bladder exstrophy (1) between 1979 and 2003. Urological surgery was performed before transplantation in 14 cases-7 bladder augmentations, 5 incontinent urinary conduits/reservoirs and 2 vesicostomies. Voiding was maintained by intermittent catheterization in 9 cases and incontinent ostomies in 6. Graft implantation was performed by extraperitoneal route with ureteral anastomosis to the native bladder in cases of bladder augmentation. Immunosuppression consisted of triple therapy with polyclonal/monoclonal antibodies. RESULTS: Urological complications consisted of urethral obstruction due to mucus hypersecretion (1), urinary fistula (1), ureterovesical obstruction (1), stone formation (3), urinary tract incrustation by Corynebacterium urealyticum (1) and pyelonephritis (2). Graft survival rates at 1 and 5 years were 77% and 62%, respectively, with a median of 79 months (95% CI 51 to 107). Three graft losses were related to urological disease. CONCLUSIONS: Renal transplantation in children with severe bladder dysfunction can achieve similar results to those obtained in the general population. Meticulous selection of patients and surgical reparative techniques ensuring voiding and adequate control of urinary infections are mandatory. Augmentation cystoplasty and intermittent catheterization are appropriate techniques currently used for achieving this outcome.

Selective effect of mineralocorticoid replacement therapy on renal acid excretion in congenital adrenal hyperplasia.

The renal acid excretion of eight children with salt-losing congenital adrenal hyperplasia, was studied in three different situations: before treatment (period I), under glucocorticoid therapy (period II) and when both glucocorticoid and mineralocorticoid were given as replacement treatment (period III). Although administration of glucocorticoid therapy alone allowed the correction of acidemia, normalization of urinary net acid excretion was achieved only after mineralocorticoid was added to the treatment.

Shunt nephritis: a report on five children.

Of 5 children with glomerulonephritis with infected ventriculoatrial shunt, 3 had improved renal function after antibiotic therapy and removal of the infected shunt. 1 patient with endoextracapillary proliferative glomerulonephritis with 70% glomerular crescents developed a rapidly progressive renal insufficiency. Renal failure was successfully managed by hemodialysis and kidney transplantation. 1 patient died from extrarenal causes in the course of a septic episode.

[Renal transplantation in children: preliminary report (author's transl)]. / Trasplante renal pediátrico. Resultados preliminares.

The preliminary results of a pediatric renal transplantation program started two years ago are presented. Fourteen children aged four to 13 years received a renal transplantation from April 1979 through March 1981. In eight patients renal graft was obtained from a living related donor (father-mother) and six from corpse donor. Recipients body weight ranged from 11 to 40 kg. (mean, 25 kg.). The previous time on hemodialysis was between three and 13 months (mean, seven months). In all cases a transfusion protocol prior to renal transplantation was followed (five transfusions minimum). Donor-recipient compatibility ranged zero-three HLA compatibilities. The patients were coordinately managed by pediatric specialists. The follow-up of the transplanted children ranges from one to 24 months (mean, 10 months). All of the patients are alive and the graft is functioning in all but one. A chronic rejection episode begun five months after renal-transplantation caused in one patients a graft loss. Plasma creatinine is lesser than 1.50 mg/100 ml. in 11 cases and inferior to 2 mg./100 ml. in the other two patients. The non-immunological complications presented have been unremarkable and no repercussions on the patients evolution have been detected. Even though the follow-up period is short, the results are highly encouraging, supporting that renal transplantation is the election treatment in children with terminal renal failure.

[Shunt nephritis (author's transl)]. / Nefritis de "shunt".

Five patients aged 1.1 - 4.3 years, affected by nephritis secondary to infection of ventriculo-atrial shunt are presented. The time lag between the occurrence of shunt infection and diagnosis of nephropathy varied from 1 to 12 months. In four patients "Staphylococcus epidermidis" was isolated from blood and CSF cultures, and "Staphylococcus aureus" in another one. Renal lesion presented as hematuria and proteinuria, and two patients developed a nephrotic syndrome. Hypertension was present in three patients. C'2 and D'4 hypocomplementemia was a constant feature in the acute stage of the disease. Endocapillary glomerulonephritis was observed in three patients and endo-extracapillary glomerulonephritis in one (70% of crescent formations). After shunt removal and antibiotic administration a favorable clinical course was followed in three patients, with remission of nephropathy signs. The fifth patient (non biopsied) died in the course of a septic process, having kept until then a good renal function.

[Incidence of renal involvement in Schönlein-Henoch syndrome (author's transl)]. / Incidencia de nefropatía en el síndrome de Schönlein-Henoch.

To determine the incidence of renal involvement in Schönlein-Henoch syndrome, authors enrolled in a prospective study all children admitted with this diagnoses from 1971 through 1978. They followed-up 112 patients, which represented the 2 per one thousand of the total hospital pediatric admission in the same period; 22 patients (19.6%) developed renal involvement. After two years of follow-up they observe one patient with progressive renal failure, four with minor urinary abnormalities and 17 asymptomatics. The single patient with renal failure represents the 4.5% of the patients with Schönlein-Henoch nephropathy and the 0.9% of the total affected with this syndrome.

[Peritoneal dialysis in the newborn (author's transl)]. / Diálisis peritoneal en el recién nacido.

In the period 1972-1978, forty peritoneal dialysis were performed in thirty seven newborn infants. Their weights were comprised between 1,250 and 5,600 gr., being under 2,000 gr. in eight cases. Peritoneal dialysis was considered as a therapeutic method integrated on the whole treatment approche applied to each critically ill newborn. Its indication was due to renal failure in twenty seven cases and to severe water and electrolyte disturbances in ten cases. Except for one newborn infant with a likely lactic acidosis, our aims in setting an adequate blood depuration and maintenacne of the water and electrolye balance were attained. In two cases we could correlate an aggravation of the clinical state with final death to complications partially due to the procedure. Other incidents in relation with peritoneal dialysis were less relevant and did not interfere with the clinical course followd by the patients. In our experience, peritoneal dialysis was a simple and highly useful method in the treatment of neonates with renal failure or severe metabolic disturbances.

[Long term renal function following acute failure in the newborn (author's transl)]. / Función renal a largo plazo en la insuficiencia renal aguda del recién nacido.

A long-term follow-up study of 27 survivors of acute renal failure in newborns was performed. A study of the evolution of renal function was possible in 20 cases, with follow-up periods ranging from 15 to 62 months (mean follow-up: 38 months). Renal function was determined by assessing glomerular filtration rate, free-water reabsorption, tubular reabsorption of phosphate and acidification ability. Results show a marked difference, according to the etiology of the acuete renal failure, between the two groups studied: 1) Most of those displaying renal failure following neonatal hipoxia, maintained persistent nephrological sequels. II) Parameters of renal function normalized between 6 and 12 months of age in those in which renal failure was related to hypovolemic shock, caused by hypertonic dehydration. Of the six patients with acute renal failure caused by neonatal hypoxia and shock (group 1), only one displayed normal renal function after 17 months. In the remaining fire patients, glomerular filtration rate continued to decrease even after three years. Three of them displayed urinary acidification disorders. An alteration in free-water reabsorption was found in the majority of the patients in both groups during the first year. This alteration persisted after three years in only four patients of group 1, although in relation to decreased glomerular filtration rate.