Renal involvement in children with HNF1ß mutation: early sonographic appearances and long-term follow-up.
Eur Radiol
; 25(5): 1479-86, 2015 May.
Article
en En
| MEDLINE
| ID: mdl-25638216
ABSTRACT
OBJECTIVES:
The aim was to report ultrasound (US) patterns of hepatocyte nuclear factor (HNF1ß) mutation throughout childhood and determine whether ultrasound could be predictive of renal failure.METHODS:
The sonographic examinations in 34 children with HNF1ß mutation were reviewed. Their sonographic characteristics were compared with renal function.RESULTS:
At first postnatal examination renal length was normal in 44 % of the patients, decreased in 24 %, increased in 12 % and asymmetrical in 20 %. Renal cortex was hyperechoic in 97 %. Corticomedullary differentiation was abnormal in 59 %. Cysts were present in 77 % of patients. Cysts were mostly subcapsular (64 %). Twenty-eight patients had follow-up examinations. A modification of the sonographic appearance was observed in 91 % of patients. Eight patients (23 %) had renal failure; no specific US pattern could be demonstrated.CONCLUSIONS:
At birth, HNF1ß mutation was typically associated on US with the combination of hyperechoic, normal-sized kidneys with abnormal corticomedullary differentiation (CMD) and multiple cortical cysts. In older children, the appearances can be variable kidneys may have decreased (32 %) or normal size (33 %); they are usually hyperechoic (50 %) with abnormal CMD (78 %) and (sub)cortical cysts (71 %). No pattern appears to be associated with renal failure. KEY POINTS ⢠HNF1ß mutations determine significant anomalies of sonographic appearances of kidneys in children. ⢠Kidneys appear mainly hyperechoic, with or without CMD and with subcapsular cysts. ⢠The US pattern may evolve throughout childhood in the same patient. ⢠No correlation was found between any sonographic pattern and renal failure.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Insuficiencia Renal
/
Factor Nuclear 1-beta del Hepatocito
/
Riñón
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
/
Newborn
Idioma:
En
Revista:
Eur Radiol
Asunto de la revista:
RADIOLOGIA
Año:
2015
Tipo del documento:
Article