Oligonephronia and Wolf-Hirschhorn syndrome: A further observation

Antonio Gatto, Pietro Ferrara, Chiara Leoni, Roberta Onesimo, Marcella Zollino, Francesco Emma, Giuseppe Zampino

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)409-414
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number2
DOIs
Publication statusPublished - Feb 2018

Fingerprint

Wolf-Hirschhorn Syndrome
Observation
Kidney
Proteinuria
Chromosomes, Human, Pair 4
Creatinine
Chromosome Disorders
Biopsy
Focal Segmental Glomerulosclerosis
Urine Specimen Collection
Urinalysis
Diuresis
Chronic Renal Insufficiency
Angiotensin-Converting Enzyme Inhibitors
Electrolytes
Atrophy
Reference Values
Triglycerides
Proteins
Chromosomes

Keywords

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

Cite this

Oligonephronia and Wolf-Hirschhorn syndrome : A further observation. / Gatto, Antonio; Ferrara, Pietro; Leoni, Chiara; Onesimo, Roberta; Zollino, Marcella; Emma, Francesco; Zampino, Giuseppe.

In: American Journal of Medical Genetics, Part A, Vol. 176, No. 2, 02.2018, p. 409-414.

Research output: Contribution to journalArticle

Gatto, Antonio ; Ferrara, Pietro ; Leoni, Chiara ; Onesimo, Roberta ; Zollino, Marcella ; Emma, Francesco ; Zampino, Giuseppe. / Oligonephronia and Wolf-Hirschhorn syndrome : A further observation. In: American Journal of Medical Genetics, Part A. 2018 ; Vol. 176, No. 2. pp. 409-414.
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