title: Wolf-Hirschhorn syndrome with improvement of renal function.
abstract: 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.
authors.affiliation: Catholic University, A. Gemelli Hospital, Rome, Italy. pferrara@rm.unicatt.it
authors.forename: P
authors.initials: P
authors.lastname: Ferrara
authors.forename: F
authors.initials: F
authors.lastname: Del Bufalo
authors.forename: A
authors.initials: A
authors.lastname: Nicoletti
authors.forename: V
authors.initials: V
authors.lastname: Romano
authors.forename: A
authors.initials: A
authors.lastname: Gatto
authors.forename: C
authors.initials: C
authors.lastname: Leoni
authors.forename: G
authors.initials: G
authors.lastname: Zampino
mesh_terms: D005260:Female; D005919:Glomerular Filtration Rate / Q000502:physiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000503:physiopathology*; D007677:Kidney Function Tests; D011188:Potassium / Q000097:blood; D011247:Pregnancy; D014508:Urea / Q000097:blood; D054877:Wolf-Hirschhorn Syndrome / Q000097:blood* / Q000503:physiopathology*
chemical_list: D014508:Urea; D011188:Potassium