A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria.
Metab Brain Dis
; 32(4): 1119-1121, 2017 08.
Article
en En
| MEDLINE
| ID: mdl-28386663
ABSTRACT
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults. Hereby, we describe a three- year old male child who presented with generalized edema and global developmental delay. Investigations revealed PKU along with FSGS. We assume that congenital nephrosis ameliorated the picture of PKU, and had a salutary effect on the growth and development. Such coexistence between PKU and FSGS hasn't been described before.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Fenilcetonurias
/
Proteinuria
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Glomeruloesclerosis Focal y Segmentaria
Límite:
Child, preschool
/
Humans
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Male
Idioma:
En
Revista:
Metab Brain Dis
Asunto de la revista:
CEREBRO
/
METABOLISMO
Año:
2017
Tipo del documento:
Article
País de afiliación:
Omán