Case Report: A Toddler With Anasarca Caused by Congenital Nephrotic Syndrome.

Tumelo M Satekge, Olivia Kiabilua, Gertruida van Biljon, Komala Pillay, Tahir S Pillay

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In one paragraph

Article in EJIFCC, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed, 0 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

Tumelo M SatekgeDepartment of Chemical Pathology1, Faculty of Health Sciences, University of Pretoria and NHLS Tshwane Academic Division, Pretoria, South Africa.

Olivia KiabiluaDepartment of Chemical Pathology1, Faculty of Health Sciences, University of Pretoria and NHLS Tshwane Academic Division, Pretoria, South Africa.

Gertruida van BiljonDepartment of Paediatrics, University of Pretoria and Steve Biko Academic Hospital, South Africa.

Komala PillayDivision of Anatomical Pathology, University of Cape Town and Red Cross Children's Hospital and NHLS, South Africa.

Tahir S PillayDepartment of Chemical Pathology1, Faculty of Health Sciences, University of Pretoria and NHLS Tshwane Academic Division, Pretoria, South Africa.

University of Cape Town · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital nephrotic syndrome is a rare inherited disorder arising from defects in the proteins of the cells in the glomerular basement membrane and develops either in utero or at birth. The clinical presentation is the result of massive protein loss in the urine with associated compensatory mechanisms. Here we present a clinical case of a female toddler with a history of anasarca (severe generalised edema) from birth and who presents with the classical biochemical laboratory findings of nephrotic syndrome, together with the more pronounced features that arise from protein loss including abnormal thyroid function testing and a marked hypercholesterolaemia. Renal biopsy indicated congenital nephrotic syndrome of the Finnish type. This clinical-diagnostic case report represents an example of the broad spectrum of pathophysiological findings of a severe congenital nephrotic syndrome.

Indexed as

congenital nephrotic syndromegeneralised edemaproteinuria

Identifiers

PMID28860961

PMCPMC5460013

OpenAlexW2801715469

What OpenQuestion holds

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LicenceCC BY-NC

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.