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1.
Am J Med Genet A ; 194(4): e63500, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38071433

RESUMEN

Patent ductus arteriosus (PDA) and coarctation of the aorta (CoA) are relatively common congenital heart defects. Pathogenic variants in PRDM6, which encodes a smooth-muscle-cell-specific transcription factor, have now been etiologically associated with non-syndromic PDA. We present three patients with PDA and CoA found to harbor PRDM6 variants, including a novel, likely-pathogenic variant.


Asunto(s)
Coartación Aórtica , Conducto Arterioso Permeable , Cardiopatías Congénitas , Humanos , Conducto Arterioso Permeable/diagnóstico , Conducto Arterioso Permeable/genética , Coartación Aórtica/genética , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Factores de Transcripción/genética
2.
Am J Med Genet A ; 188(2): 463-472, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34655156

RESUMEN

Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X-linked disorder caused by pathogenic variants in membrane-bound transcription factor protease, site 2 (MBTPS2). Pathogenic MBTPS2 variants also cause BRESHECK syndrome, characterized by the IFAP triad plus intellectual disability and multiple congenital anomalies. Here we present a patient with ichthyosis, sparse hair, pulmonic stenosis, kidney dysplasia, hypospadias, growth failure, thrombocytopenia, anemia, bone marrow fibrosis, and chronic diarrhea found by research-based exome sequencing to harbor a novel, maternally inherited MBTPS2 missense variant (c.766 G>A; (p.Val256Leu)). In vitro modeling supports variant pathogenicity, with impaired cell growth in cholesterol-depleted media, attenuated activation of the sterol regulatory element-binding protein pathway, and failure to activate the endoplasmic reticulum stress response pathway. Our case expands both the genetic and phenotypic spectrum of BRESHECK syndrome to include a novel MBTPS2 variant and cytopenias, bone marrow fibrosis, and chronic diarrhea.


Asunto(s)
Discapacidad Intelectual , Alopecia/genética , Encéfalo/anomalías , Anomalías Congénitas , Oído/anomalías , Displasia Ectodérmica , Estrés del Retículo Endoplásmico/genética , Enfermedades Genéticas Ligadas al Cromosoma X , Enfermedad de Hirschsprung , Humanos , Discapacidad Intelectual/genética , Riñón/anomalías , Masculino , Metaloendopeptidasas/genética , Péptido Hidrolasas , Esteroles , Factores de Transcripción
3.
Pediatr Transplant ; 26(3): e14210, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-34907635

RESUMEN

BACKGROUND: Kidney allograft torsion is a rare complication of kidney transplant that can lead to allograft loss from prolonged ischemia if not quickly corrected with detorsion and nephropexy. We report a case of late intraperitoneal renal allograft torsion in a pediatric transplant recipient. CASE REPORT: The patient is a 7-year-old male with a history of end-stage renal disease secondary to renal dysplasia in the setting of bilateral high-grade vesicoureteral reflux. He underwent bilateral native nephrectomies for recurrent pyelonephritis and right ureteral kink with urinary tract obstruction. Torsion occurred 3 years after transplant in the setting of one day of emesis, loose stool, severe abdominal pain, and decreased urine output. Diagnosis of transplant torsion was suspected on non-contrast CT scan done after transplant Doppler ultrasound showed no flow to the allograft. The CT scan showed that the kidney had been medialized and renal hilum was flipped from the expected orientation. The patient required a transplant nephrectomy. CONCLUSIONS: Renal transplant torsion is a rare event but should be suspected in any renal transplant recipient with acute onset of abdominal pain, acute kidney injury, and decreased urine output, regardless of length of time from transplantation. Patients suspected to have renal torsion should be evaluated emergently with a transplant ultrasound Doppler.


Asunto(s)
Trasplante de Riñón , Dolor Abdominal , Aloinjertos , Niño , Femenino , Humanos , Riñón , Trasplante de Riñón/efectos adversos , Masculino , Receptores de Trasplantes
4.
Cureus ; 16(1): e52738, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38384656

RESUMEN

A 13-year-old boy presented with hypoxia, microscopic hematuria, and elevated blood pressures. Persistent microscopic hematuria and hypertension led to investigation of glomerular and non-glomerular causes of hematuria. After reviewing his clinical course, family history, and laboratory testing, an additional test was sent, revealing the diagnosis.

5.
Pediatr Transplant ; 15(2): 128-41, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21309962

RESUMEN

LaR Pediatric solid-organ transplantation is an increasingly successful treatment for organ failure. Five- and 10-yr patient survival rates have dramatically improved over the last couple of decades, and currently, over 80% of pediatric patients survive into adolescence and young adulthood. Waiting list mortality has been a concern for liver, heart, and intestinal transplantation, illustrating the importance of transplant as a life-saving therapy. Unfortunately, the success of pediatric transplantation comes at the cost of long-term or late complications that arise as a result of allograft rejection or injury, immunosuppression-related morbidity, or both. As transplant recipients enter adolescence treatment, non-adherence becomes a significant issue, and the medical and psychosocial impacts transition to adulthood not only with regard to healthcare but also in terms of functional outcomes, economic potential, and overall QoL. This review addresses the clinical and psychosocial challenges encountered by pediatric transplant recipients in the current era. A better understanding of pediatric transplant outcomes and adult morbidity and mortality requires further ongoing assessment.


Asunto(s)
Inmunosupresores/administración & dosificación , Trasplante de Órganos/efectos adversos , Trasplante de Órganos/mortalidad , Calidad de Vida , Donantes de Tejidos/provisión & distribución , Adolescente , Factores de Edad , Niño , Desarrollo Infantil/fisiología , Preescolar , Femenino , Rechazo de Injerto , Supervivencia de Injerto , Trasplante de Corazón/efectos adversos , Trasplante de Corazón/mortalidad , Humanos , Inmunosupresores/efectos adversos , Intestinos/trasplante , Trasplante de Hígado/efectos adversos , Trasplante de Hígado/mortalidad , Trasplante de Pulmón , Masculino , Pediatría , Cuidados Posoperatorios/métodos , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/fisiopatología , Pronóstico , Medición de Riesgo , Análisis de Supervivencia , Factores de Tiempo , Inmunología del Trasplante , Resultado del Tratamiento
6.
J Med Liban ; 58(3): 132-6, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-21462840

RESUMEN

The diagnosis of hypertension in children relies upon blood pressure distribution tables adjusted for gender, age, and height. Unlike in adults, specific blood pressure levels corresponding to long-term adverse outcomes in children have not been established. However, there are known surrogate markers of target organ injury associated with elevated blood pressure, such as left ventricular hypertrophy, retinal changes, thickening of the carotid artery wall, cognitive changes, and even evidence of early atherosclerosis. Moreover there is corroboration that hypertension in children predicts adult hypertension.In view of the global childhood obesity epidemic, in conjunction with the well-established association of obesity and hypertension, evaluation of blood pressure in the pediatric population has become an important health concern. With this insight, efforts continue worldwide to accurately measure, determine prevalence and monitor recent trends of hypertension in children and adolescents.


Asunto(s)
Hipertensión/complicaciones , Hipertensión/epidemiología , Adolescente , Niño , Humanos , Hipertensión/diagnóstico , Obesidad/epidemiología , Prevalencia
7.
Pediatrics ; 127(4): 742-53, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21382946

RESUMEN

Pediatric solid-organ transplantation is an increasingly successful treatment for solid-organ failure. With dramatic improvements in patient survival rates over the last several decades, there has been a corresponding emergence of complications attributable to pretransplant factors, transplantation itself, and the management of transplantation with effective immunosuppression. The predominant solid-organ transplantation sequelae are medical and psychosocial. These sequelae have a substantial effect on transition to adult care; as such, hurdles to successful transition of care arise from the patients, their families, and pediatric and adult health care providers. Crucial to successful transitioning is the ongoing development of a sense of autonomy and responsibility for one's own care. In this article we address the barriers to transitioning that occur with long-term survival in pediatric solid-organ transplantation. Although a particular transitioning model is not promoted, practical tools and strategies that contribute to successful transitioning of pediatric patients who have received a transplant are suggested.


Asunto(s)
Trasplante de Órganos , Grupo de Atención al Paciente , Complicaciones Posoperatorias/terapia , Derivación y Consulta , Sobrevivientes , Contrato de Transferencia , Adaptación Psicológica , Adolescente , Adulto , Niño , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/psicología , Trastornos del Conocimiento/terapia , Conducta Cooperativa , Evaluación de la Discapacidad , Rechazo de Injerto/diagnóstico , Rechazo de Injerto/psicología , Rechazo de Injerto/terapia , Accesibilidad a los Servicios de Salud , Necesidades y Demandas de Servicios de Salud , Humanos , Inmunosupresores/efectos adversos , Inmunosupresores/uso terapéutico , Vida Independiente/psicología , Cobertura del Seguro , Comunicación Interdisciplinaria , Cumplimiento de la Medicación/psicología , Trasplante de Órganos/psicología , Autonomía Personal , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/psicología , Calidad de Vida/psicología , Ajuste Social , Adulto Joven
8.
Pediatr Nephrol ; 22(1): 132-5, 2007 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-17039332

RESUMEN

Tumor lysis syndrome is a potentially life-threatening complication of induction chemotherapy for treatment of lymphoproliferative malignancies. Serious complications of tumor lysis syndrome are rare with the preemptive use of allopurinol, rasburicase, and urine alkalinization. We report a case of oliguric acute renal failure due to bilateral xanthine nephropathy in an 11-year-old girl as a complication of tumor lysis syndrome during the treatment of T-cell acute lymphoblastic leukemia. Xanthine nephrolithiasis results from the inhibition of uric acid synthesis via allopurinol which increases plasma and urinary xanthine and hypoxanthine levels. Reports of xanthine nephrolithiasis as a cause of tumor lysis syndrome are rare in the absence of defects in the hypoxanthine-guanine phosphoribosyl transferase (HGPRT) enzyme. Xanthine nephropathy should be considered in patients who develop acute renal failure following aggressive chemotherapy with appropriate tumor lysis syndrome prophylaxis. Urine measurements for xanthine could aid in the diagnosis of patients with nephrolithiasis complicating tumor lysis syndrome. Allopurinal dosage should be reduced or discontinued if xanthine nephropathy is suspected.


Asunto(s)
Lesión Renal Aguda/etiología , Nefrolitiasis/complicaciones , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Xantina/efectos adversos , Lesión Renal Aguda/diagnóstico , Alopurinol/efectos adversos , Alopurinol/uso terapéutico , Niño , Inhibidores Enzimáticos/efectos adversos , Inhibidores Enzimáticos/uso terapéutico , Femenino , Humanos , Nefrolitiasis/etiología , Nefrolitiasis/patología , Síndrome de Lisis Tumoral/complicaciones , Síndrome de Lisis Tumoral/tratamiento farmacológico , Xantina/orina
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