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1.
Am J Med Genet C Semin Med Genet ; 169(4): 337-48, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26581677

ABSTRACT

Common clinical genetic referrals for the pediatric patient include a single major or multiple minor anomalies, dysmorphic features, especially when accompanied by developmental delay or intellectual disability, and failure to thrive (FTT). This review provides pediatric definitions of FTT and the genetic differential for FTT, which includes chromosomal disorders, microdeletion/duplication syndromes, uniparental disomy/methylation disorder, disorders of DNA repair, teratogens, metabolic syndromes, and skeletal dysplasias. Three clinical genetics cases highlight challenges in deciphering the cause of FTT. The review concludes with a ten-step approach that might improve diagnostic ability in differentiating FTT cases (those with genetic or other metabolic causes) from "failure to feed," in other words FTT as the direct result of neglect and/or child abuse.


Subject(s)
Child Abuse/diagnosis , Failure to Thrive/diagnosis , Feeding Behavior/psychology , Munchausen Syndrome by Proxy/psychology , Starvation/diagnosis , Child , Child Development/physiology , Child, Preschool , Diagnosis, Differential , Failure to Thrive/genetics , Female , Humans , Infant , Male
2.
J Pediatr ; 158(3): 410-5, 2011 Mar.
Article in English | MEDLINE | ID: mdl-20884009

ABSTRACT

OBJECTIVE: To describe patient selection, treatment administration, response evaluation, and side effect management associated with sapropterin therapy in infants and children aged <4 years. STUDY DESIGN: Six case reports are presented from 4 US metabolic clinics treating phenylketonuria with sapropterin in patients aged 7 months to 4 years. Outcomes included blood phenylalanine (Phe) levels before and during treatment. For 3 of 6 cases, diet records were used to monitor changes in dietary Phe. RESULTS: Severity of phenylketonuria ranged from mild to severe (classic). Treatment with sapropterin was safe and generally well tolerated. Blood Phe levels were reduced, or maximum dietary Phe tolerance was increased in patients with blood Phe that was well controlled by diet. CONCLUSIONS: Given the increasing evidence that maintaining blood Phe levels below 360 µmol/L is important for the normal development of neurocognitive and behavioral function, sapropterin can be combined with a Phe-restricted diet to control blood Phe levels in young patients responsive to sapropterin therapy.


Subject(s)
Biopterins/analogs & derivatives , Phenylketonurias/drug therapy , Biopterins/administration & dosage , Biopterins/adverse effects , Biopterins/therapeutic use , Child, Preschool , Female , Humans , Infant , Male , Patient Selection , Phenylalanine/blood , Treatment Outcome
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