Wolf-Hirschhorn syndrome with improvement of renal function.
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.
Ferrara
P
P
Catholic University, A. Gemelli Hospital, Rome, Italy. pferrara@rm.unicatt.it
Del Bufalo
F
F
Nicoletti
A
A
Romano
V
V
Gatto
A
A
Leoni
C
C
Zampino
G
G
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*
D014508:Urea; D011188:Potassium