Fenilcetonúria associada à alergia à proteína do leite de vaca

Abstract

Introdução: a fenilcetonúria (PKU) é uma doença do metabolismo da fanilalanina cujo tratamento se baseia na introdução precoce de uma fórmula com restrição de fenilalanina. Relato do caso: uma menina, com diagnóstico de PKU a partir da triagem neonatal, com 82 dias de vida, recebeu tratamento dietético com fórmula com restrição de fenilalanina associada à fórmula láctea e desenvolveu alergia à proteína do leite de vaca (APLV) com sintomas cutâneos e gastrointestinais. Conclusão: o manejo dietético da PKU pode precipitar a ocorrência da APLV.

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies

“…Sixty-four of the 79 included studies reported at least one patient-important outcome at individual or population level, and they are displayed in Table 1 for study characteristics. Regarding study design, 18 were case series [ 22 , 23 , 33 , 34 , 40 – 42 , 45 , 54 , 55 , 58 , 60 , 70 , 84 – 87 ], 47 cross-sectional studies [ 6 , 7 , 13 – 15 , 17 – 21 , 24 , 26 , 29 , 30 , 35 – 39 , 43 , 46 , 47 , 53 , 56 , 59 , 61 , 62 , 67 , 68 , 71 , 73 , 75 – 77 , 79 – 81 , 88 – 91 ], 13 case reports [ 34 , 44 , 48 , 51 , 63 , 64 , 69 , 74 , 84 , 87 , 92 – 94 ], and two cohort studies [ 57 , 95 ].…”

“…Forty of the included studies were conducted in Brazil [ 14 , 19 – 24 , 26 , 27 , 29 , 31 , 43 , 45 , 51 , 56 , 58 , 59 , 62 , 64 , 67 , 69 – 73 , 75 – 78 , 80 , 81 , 83 , 84 , 86 , 88 , 91 , 94 , 97 , 98 ], seven in Argentina [ 15 , 17 , 18 , 33 – 38 , 46 , 47 ], five in Chile [ 39 – 42 , 89 ], three each in Colombia [ 48 , 54 , 74 ] and Mexico [ 55 , 85 , 93 ], two each in Ecuador [ 44 , 92 ], Venezuela [ 60 , 63 ] and Uruguay [ 32 , 90 ], and one in Cuba [ 68 ]. One study [ 87 ] was a multicenter conducted in Ecuador, Bolivia, and Paraguay.…”

“…Additional file 3 : Table 3 provides additional details around the specific pre-specified patient-important or economic burden outcomes reported among the 12 case report studies. Five out of the 12 studies reported psychosocial outcomes (ie, severe mental retardation and autism, irritability, aggressiveness and intellectual deterioration) [ 44 , 48 , 64 , 74 , 90 ]; four on physical outcomes (ie, psychomotor retardation) [ 44 , 64 , 74 , 90 ]; one study reported on other outcomes (ie, maternal phenylketonuria) [ 51 ]; and two studies reported socioeconomic results (ie, delay in school performance, poor socialization, and withdrawal from formal schooling) [ 64 , 74 ].…”

“…Full-text articles excluded 35-39, 43, 46, 47, 53, 56, 59, 61, 62, 67, 68, 71, 73, 75-77, 79-81, 88-91], 13 case reports [34,44,48,51,63,64,69,74,84,87,[92][93][94], and two cohort studies [57,95].…”

“…The majority of the cross-sectional, case series, and case report studies (83.1%, n = 64) reported only on patientimportant outcomes at an individual level (Table 1). Among the 12 case report studies, the majority (83.3%, n = 10) assessed neurological, neurocognitive and neuropsychiatric impairments [44,48,63,64,74,90,[92][93][94], executive function deficit [34,44,64,90,92], skin problems [43,48,63,64], and patient adherence to clinical recommendations [23,25,61]. Six case report studies [48,51,64,69,92,94] evaluated other outcomes such as vomiting [48,64,94], weight-height deficit [64], abdominal distention [68], persistent respiratory acidosis [68], gastroesophageal reflux [94], bronchitis [94], megaloblastic anemia [69], and maternal phenylketonuria [51] (Table 1).…”