ABSTRACT
El síndrome de Pierson se caracteriza por la presencia de síndrome nefrótico congénito y microcoria bilateral. Genéticamente, este trastorno está ocasionado por mutaciones en el gen LAMB2, que codifica la cadenaß2 de la laminina. Hasta la fecha, en la bibliografía se informaron 98casos y 50mutaciones diferentes. No existen terapias específicas para el síndrome de Pierson, y el tratamiento es complementario. El pronóstico es malo por la disfunción renal progresiva y las complicaciones de la insuficiencia renal. En este artículo, se informa sobre una mutación homocigota novedosa (c.1890G>C [p.Q630H]) en el gen LAMB2 en una paciente con síndrome de Pierson que tenía un fenotipo atípico, como epidermólisis ampollosa.
Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin ß2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolysis bullosa
Subject(s)
Humans , Female , Infant , Mutation , Nephrotic Syndrome/diagnosis , Turkey , Epidermolysis Bullosa , Fatal Outcome , Renal InsufficiencyABSTRACT
Pierson syndrome is characterized by congenital nephrotic syndrome and bilateral microcoria. Genetically, mutations in the LAMB2 gene, which encodes the laminin ß2 chain, lead to this disorder. To date, 98 cases and 50 different mutations have been reported in literature. There are no specific therapies for Pierson syndrome and treatment is supportive. The prognosis is poor because of progressive impairment of renal function and complications of renal failure. We report a novel homozygous mutation (c.1890G>T, p.Q630H) in the LAMB2 gene in a patient with Pierson syndrome who had atypical phenotypic feature such as epidermolysis bullosa.
El síndrome de Pierson se caracteriza por la presencia de síndrome nefrótico congénito y microcoria bilateral. Genéticamente, este trastorno está ocasionado por mutaciones en el gen LAMB2, que codifica la cadena ß2 de la laminina. Hasta la fecha, en la bibliografía se informaron 98 casos y 50 mutaciones diferentes. No existen terapias específicas para el síndrome de Pierson, y el tratamiento es complementario. El pronóstico es malo por la disfunción renal progresiva y las complicaciones de la insuficiencia renal. En este artículo, se informa sobre una mutación homocigota novedosa (c.1890G>C [p.Q630H]) en el gen LAMB2 en una paciente con síndrome de Pierson que tenía un fenotipo atípico, como epidermólisis ampollosa.
Subject(s)
Laminin/genetics , Myasthenic Syndromes, Congenital/diagnosis , Nephrotic Syndrome/diagnosis , Pupil Disorders/diagnosis , Female , Genetic Markers , Homozygote , Humans , Infant , Mutation , Myasthenic Syndromes, Congenital/genetics , Nephrotic Syndrome/genetics , Phenotype , Pupil Disorders/geneticsABSTRACT
BACKGROUND AND OBJECTIVES: Left ventricular hypertrophy (LVH) is an independent risk factor and an intermediate end point of dialysis-associated cardiovascular comorbidity. We utilized a global pediatric registry to assess the prevalence, incidence, and predictors of LVH as well as its evolution in the longitudinal follow-up in dialyzed children. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Cross-sectional echocardiographic, clinical, and biochemical data were evaluated in 507 children on peritoneal dialysis (PD), and longitudinal data were evaluated in 128 patients. The 95(th) percentile of LV mass index relative to height age was used to define LVH. RESULTS: The overall LVH prevalence was 48.1%. In the prospective analysis, the incidence of LVH developing de novo in patients with normal baseline LV mass was 29%, and the incidence of regression from LVH to normal LV mass 40% per year on PD. Transformation to and regression from concentric LV geometry occurred in 36% and 28% of the patients, respectively. Hypertension, high body mass index, use of continuous ambulatory peritoneal dialysis, renal disease other than hypo/dysplasia, and hyperparathyroidism were identified as independent predictors of LVH. The use of renin-angiotensin system (RAS) antagonists and high total fluid output (sum of urine and ultrafiltration) were protective from concentric geometry. The risk of LVH at 1 year was increased by higher systolic BP standard deviation score and reduced in children with renal hypo/dysplasia. CONCLUSIONS: Using height-adjusted left ventricular mass index reference data, LVH is highly prevalent but less common than previously diagnosed in children on PD. Renal hypo/dysplasia is protective from LVH, likely because of lower BP and polyuria. Hypertension, fluid overload, and hyperparathyroidism are modifiable determinants of LVH.