RESUMO
We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal or excessive. The combination of the features is consistent with the diagnosis of Fryns syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion syndrome, differential diagnoses include conditions overlapping with FS such as Simpson-Golabi-Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR syndrome, Schinzel-Giedion syndrome, and Rudiger syndrome.
Assuntos
Anormalidades Craniofaciais/diagnóstico , Deformidades Congênitas da Mão/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Hérnias Diafragmáticas Congênitas , Deficiência Intelectual/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Unhas Malformadas/diagnóstico , Hibridização Genômica Comparativa , Anormalidades Craniofaciais/genética , Fácies , Evolução Fatal , Feminino , Deformidades Congênitas da Mão/genética , Perda Auditiva Neurossensorial/genética , Hérnia Diafragmática/diagnóstico , Hérnia Diafragmática/genética , Humanos , Ilhas do Oceano Índico , Lactente , Deficiência Intelectual/genética , Deformidades Congênitas dos Membros/genética , Masculino , Unhas Malformadas/genética , FenótipoRESUMO
BACKGROUND: Deferasirox (DFX) is an oral iron chelator with an established dose-dependent efficacy in transfusion-related iron overload. Whereas emerging long-term data confirm the safety of the drug, with transient moderate elevation of serum creatinine level, several authors have reported renal tubular dysfunction. The aim of this study was to evaluate tubular and glomerular function before and after the initiation of DFX therapy in a pediatric patient population. METHODS: Ten children (4 girls, mean age 12.4 ± 3.9 years) enrolled in a routine blood transfusion program were treated with 24.8 ± 9.6 mg/kg per day of DFX, and renal function was assessed before and 17.2 ± 8.9 months after the initiation of DFX therapy. RESULTS: Prior to treatment with DFX, all patients had a normal glomerular function rate (GFR) (125 ± 15 ml/min per 1.73 m(2)) and normal tubular function. Following the initiation of DFX therapy, the GFR decreased by approximately 20 % with one patient with a GFR of <80 mL/min per 1.73 m(2) and seven patients with a GFR of <100 mL/min per 1.73 m(2). Two patients experienced a generalized proximal tubular dysfunction whereas nine patients presented at least one sign of proximal tubular dysfunction. CONCLUSIONS: Renal toxicity is a frequent adverse event of DFX treatment, presenting as both glomerular and proximal dysfunction. A routine renal assessment is therefore required to prevent chronic kidney disease that may result from prolonged tubular injury.