RESUMO
OBJECTIVE: The aim of this study was to document the association between pancreatic agenesis or hypoplasia and multicystic renal dysplasia related to transcription factor 2 (TCF2) or hepatocyte nuclear factor 1 beta mutations. METHODOLOGY: We describe the phenotype of the pancreas and the kidneys from three fetuses heterozygous for a mutation of TCF2. CASES: Case 1 had bilateral hyperechogenic, multicystic kidneys, bilateral clubfoot and pancreatic agenesis. Case 2 had two enlarged polycystic kidneys, anamnios and pancreatic agenesis. Case 3 had multicystic renal dysplasia, oligohydramnios and hypoplasia of the tail of the pancreas. CONCLUSION: TCF2 mutations are frequently discovered in fetuses presenting with bilateral hyperechogenic kidneys. The association between pancreatic agenesis and a TCF2 mutation has not previously been reported. TCF2 deficiency in mice leads to pancreatic agenesis, suggesting that the gene is essential for pancreatic development. Our observations indicate the importance of visualizing the pancreas during ultrasound examinations if renal malformations are discovered.
Assuntos
Fator 1-beta Nuclear de Hepatócito/genética , Rim Displásico Multicístico/genética , Mutação , Pâncreas/anormalidades , Adulto , Pé Torto Equinovaro/genética , Feminino , Idade Gestacional , Heterozigoto , Humanos , Rim Displásico Multicístico/diagnóstico por imagem , Rim Displásico Multicístico/patologia , Oligo-Hidrâmnio/genética , Pâncreas/diagnóstico por imagem , Pâncreas/patologia , Fenótipo , Gravidez , Ultrassonografia Pré-NatalAssuntos
Anormalidades Múltiplas/diagnóstico , Encéfalo/anormalidades , Esterno/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Adulto , Encéfalo/patologia , Anormalidades Cardiovasculares/diagnóstico , Anormalidades Cardiovasculares/diagnóstico por imagem , Anormalidades Cardiovasculares/patologia , Feminino , Humanos , Recém-Nascido , Gravidez , Esterno/diagnóstico por imagem , Esterno/patologia , Síndrome , Ultrassonografia Pré-NatalRESUMO
The goals of this study were to determine whether anal sphincter dysfunction in spina bifida develops during fetal life or after birth and whether it reflects the severity of spina bifida and therefore can be used as a criterion to select the cases that could benefit from in uterosurgery. Total protein and digestive enzyme activities [gamma-glutamyl transpeptidase (GGTP), aminopeptidase M (AMP), and alkaline phosphatase isoenzymes including the intestinal form (iALP)] were assayed retrospectively in amniotic fluid from 80 myelomeningocele spina bifida cases without unrelated associated malformation (gestational age 14-33 wk). A normal enzyme activity profile was observed in 46 of the 80 cases. Two abnormal profiles were observed: 1) bilious vomiting, characterized by abnormally high GGTP and AMP activities but normal iALP, and 2) digestive enzyme leakage, characterized by abnormally high activities of GGTP, AMP, and iALP, typical of anal incontinence. No relation was observed between these enzyme activity profiles and the different secondary signs of spina bifida or the level of the damage. In conclusion, anal sphincter dysfunction in spina bifida revealed by amniotic fluid digestive enzyme activities occurred before 24 wk in fetal life in 28.7% of cases. This criterion may be indicative of the severity of spina bifida and therefore perhaps could be used to select cases that are suited to in utero surgery. It could also be used to establish the potential benefit of this surgery in fecal incontinence.