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01-04-2012 | Clinical Quiz

Infant with gross hematuria and nephrotic syndrome: answers

Authors: Olivera Marsenic, Ajla Wasti, Zonghin Yu, Kevin Couloures, Dwayne Henry, Martin Turman

Published in: Pediatric Nephrology | Issue 4/2012

Excerpt

Our differential diagnosis was acute glomerulonephritis due to infections known to cause nephrotic syndrome (NS) in the first year of life, including syphilis, toxoplasmosis, cytomegalovirus (CMV), rubella, hepatitis B, hepatitis C, human immunodeficiency virus (HIV), parvovirus, Epstein-Barr virus (EBV), herpes simplex virus (HSV), hemolytic–uremic syndrome (HUS), autoimmune disease [systemic lupus erythematosus (SLE), vasculitis], malignancy, and primary (genetic) NS with later presentation at 9 months of age (Table 1).

Table 1

Differential diagnosis of nephrotic syndrome in the first year of life [3, 4, 7, 10]

Possible diagnoses
Primary
Genetic with mutations in genes:	NS type and/or associated syndrome
NPHS1 (nephrin)	Finish type NS
NPHS2 (podocin)	Steroid resistant NS
WT1	DMS, DDS, Frasier syndrome
LAMB2	DMS, Pierson syndrome
PLCE1	DMS
LMX1B	Nail-patella syndrome
NS with brain and/or other extrarenal defects	Galloway Mowat syndrome
NS with brain and/or other extrarenal defects	NS with mitochondrial cytopathy
Idiopathic NS	Minimal change NS
Idiopathic NS	Focal segmental glomerulosclerosis
Secondary
Infections
Congenital syphilis
Toxoplasmosis
Rubella
Cytomegalovirus
Hepatitis B
Human immunodeficiency virus
Malaria
Systemic disease (systemic lupus erythematosus)
Hemolytic-uremic syndrome
Toxin exposure (mercury)

NS nephrotic syndrome, DMS diffuse mesangial sclerosis, DDS Denys-Drash syndrome

…

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Title: Infant with gross hematuria and nephrotic syndrome: answers
Authors: Olivera Marsenic
Ajla Wasti
Zonghin Yu
Kevin Couloures
Dwayne Henry
Martin Turman
Publication date: 01-04-2012
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 4/2012
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-011-1968-9

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Infant with gross hematuria and nephrotic syndrome: answers

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