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Wolf–Hirschhorn syndrome with improvement of renal function
Author(s) -
Ferrara P.,
Del Bufalo F.,
Nicoletti A.,
Romano V.,
Gatto A.,
Leoni C.,
Zampino G.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33357
Subject(s) - urinary system , medicine , renal function , parenchyma , blood urea nitrogen , ultrasound , pathology , kidney , urology , radiology
Wolf–Hirschhorn syndrome (WHS) is a chromosomal disorder characterized by partial deletion of the short arm of chromosome 4. We describe a girl with a de novo unbalanced traslocation t(4;7)(p16.2;p22), associated with a mild version of a classical WHS phenotype. She did not present major urinary tract abnormalities but had parenchymal hyperechogenicity at renal ultrasound at the birth with normal renal scintigraphy. She had also a reduction of GFR with elevated levels of blood urea nitrogen and serum potassium until the age of 6 months. We followed the patient with periodic clinical examination and laboratory and radiological investigations and observed at the age of 5 years a normal renal ultrasound without parenchymal hyperechogenicity. © 2010 Wiley‐Liss, Inc.