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 m , 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 (U /U 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.

Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature

“…Kidney anomalies and renal insufficiency are rare but occasionally occur in the patients with WHS. 19,20 There are a few reported cases of renal tubular acidosis. 21 Evidence has shown that individuals with WHS may have immunodeficiency with decreased levels of immunoglobulin leading to increased susceptibility to various infections.…”

Diagnostic Image of Oligomeganephronia - A temporary Caseillustrated Review

“…Most cases are sporadic, though familial OMN has been described [3,13]. Even though the condition is usually isolated, oligomeganephronia can be associated with genetic syndromes such as renal coloboma syndrome, brachio-oto-renal syndrome, Wolf-Hirschhorn syndrome, and 4p deletion syndrome [7,18]. OMN can also manifest alongside facial anomalies, growth retardation, seizures, extremity deformities, and congenital cardiac defects [3,9].…”

“…The diagnostic imaging findings in oligomeganephronia have started becoming the object of scientific papers only in recent years [7]. Radiography and ultrasound offer little value due to unspecific findings -bilateral reduction in renal size, retained shape, and retarded rate of growth [1,3,9].…”

“…Oligomeganephronia (OMN) is a rare condition, the awareness of which has been rising in recent years [1][2][3][4][5][6][7]. It was first described in 1962 by Royer, Habib et al [8] as a peculiar form of hypoplastic kindey.…”

“…This entity is subsequently called (congenital) oligomeganephronia [3,5]. All patients eventually develop progressive renal insufficiency, which leads to complete insufficiency between within a few months from birth to the beginning-middle of adolescence [4][5][6][7][8][9][10][11][12][13][14]. In recent years there are increasing reports of cases with late onset of symptoms -between 20 and 36 years of age [2,[10][11][12][13][14][15][16][17][18][19][20].…”