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Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.
Am J Med Genet A 2018; 176(2):409-414AJ

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+Show Affiliations

Institute of Pediatrics, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.Institute of Pediatrics, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.Institute of Genomic Medicine, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.Division of Nephrology and Dialysis, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy.Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, Catholic University, Rome, Italy.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29193639

Citation

Gatto, Antonio, et al. "Oligonephronia and Wolf-Hirschhorn Syndrome: a Further Observation." American Journal of Medical Genetics. Part A, vol. 176, no. 2, 2018, pp. 409-414.
Gatto A, Ferrara P, Leoni C, et al. Oligonephronia and Wolf-Hirschhorn syndrome: A further observation. Am J Med Genet A. 2018;176(2):409-414.
Gatto, A., Ferrara, P., Leoni, C., Onesimo, R., Zollino, M., Emma, F., & Zampino, G. (2018). Oligonephronia and Wolf-Hirschhorn syndrome: A further observation. American Journal of Medical Genetics. Part A, 176(2), pp. 409-414. doi:10.1002/ajmg.a.38554.
Gatto A, et al. Oligonephronia and Wolf-Hirschhorn Syndrome: a Further Observation. Am J Med Genet A. 2018;176(2):409-414. PubMed PMID: 29193639.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Oligonephronia and Wolf-Hirschhorn syndrome: A further observation. AU - Gatto,Antonio, AU - Ferrara,Pietro, AU - Leoni,Chiara, AU - Onesimo,Roberta, AU - Zollino,Marcella, AU - Emma,Francesco, AU - Zampino,Giuseppe, Y1 - 2017/11/28/ PY - 2016/11/14/received PY - 2017/09/19/revised PY - 2017/10/31/accepted PY - 2017/12/2/pubmed PY - 2019/1/12/medline PY - 2017/12/2/entrez KW - Wolf-Hirschhorn KW - hypertension KW - oligomeganephronia KW - proteinuria KW - renal failure SP - 409 EP - 414 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 176 IS - 2 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/29193639/Oligonephronia_and_Wolf-Hirschhorn_syndrome:_A_further_observation L2 - https://doi.org/10.1002/ajmg.a.38554 DB - PRIME DP - Unbound Medicine ER -