Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.

Abstract

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by a partial deletion of chromosome 4 (4p16.3p16.2). We describe a case of a male 9 years old children with WHS proteinuria and hypertension. Laboratory data showed creatinine 1.05 mg/dl, GFR 65.9 ml/min/1.73 m2 , cholesterol 280 mg/dl, triglyceride 125 mg/dl with electrolytes in the normal range. Urine collection showed protein 2.72 g/L with a urine protein/creatinine ratio (UP /UCr ratio) of 4.2 and diuresis of 1,100 ml. Renal ultrasound showed reduced kidney dimensions with diffusely hyperechogenic cortex and poorly visualized pyramids. Renal biopsy showed oligonephronia with focal segmental glomerulosclerosis associated with initial tubulointerstitial sclerotic atrophy. The child began therapy with Angiotensin-converting enzyme inhibitors (ACE-inhibitors) to reduce proteinuria and progression of chronic kidney disease. In the literature the anomalies of number of glomeruli oligonephronia and oligomeganephronia (OMN) are described in two forms, one without any associated anomalies, sporadic, and solitary and the other with one or more anomalies. Our review of the literature shows that the pathogenesis of this anomaly is unknown but the role of chromosome 4 is very relevant. Many cases of OMN are associated with anomalies on this chromosome, in the literature cases series we observed this association in 14/48 cases (29.2%) and in 7 of these 14 cases with WHS. Our case and the review of literature demonstrate how periodic urinalysis and renal ultrasound monitoring is recommended in patients affected by WHS and the renal biopsy must be performed when there is the onset of proteinuria.

• Authors: Antonio Gatto, Pietro Ferrara, Chiara Leoni, Roberta Onesimo, Marcella Zollino, Francesco Emma, Giuseppe Zampino
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 176 Issue 2 Pg. 409-414 (02 2018) ISSN: 1552-4833 [Electronic] United States
• PMID: 29193639 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2017 Wiley Periodicals, Inc.

Chemical References

• Angiotensin-Converting Enzyme Inhibitors

Topics

• Angiotensin-Converting Enzyme Inhibitors (administration & dosage)
• Child
• Chromosome Deletion
• Chromosome Disorders (drug therapy, genetics, physiopathology)
• Chromosomes, Human, Pair 4 (genetics)
• Glomerulosclerosis, Focal Segmental (diagnostic imaging, drug therapy, genetics, physiopathology)
• Humans
• Hypertension (genetics, physiopathology)
• Kidney (diagnostic imaging, drug effects, physiopathology)
• Kidney Function Tests
• Male
• Wolf-Hirschhorn Syndrome (drug therapy, genetics, physiopathology)