Evidence map›Paper›PMID 32356190›Full record

ArticlePediatric nephrology (Berlin, Germany)2020

Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

Li Lei, Gia Oh, Scott Sutherland, Graham Abra, John Higgins, Richard Sibley, Megan Troxell, Neeraja Kambham

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Article in Pediatric nephrology (Berlin, Germany), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.3field-weighted citation impact, top 20% of its field
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.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 21 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 3 institutions in 1 country.

Li LeiDepartment of Pathology, Stanford University, H2110, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Gia OhRandall Children's Hospital, Portland, OR, USA.
Scott SutherlandDepartment of Pediatrics & Division of Nephrology, Stanford University, Stanford, CA, USA.
Graham AbraSatellite Healthcare, San Jose, CA, USA.
John HigginsDepartment of Pathology, Stanford University, H2110, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Richard SibleyDepartment of Pathology, Stanford University, H2110, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Megan TroxellDepartment of Pathology, Stanford University, H2110, 300 Pasteur Drive, Stanford, CA, 94305, USA.
Neeraja KambhamDepartment of Pathology, Stanford University, H2110, 300 Pasteur Drive, Stanford, CA, 94305, USA. nkambham@stanford.edu.
Stanford University · USRandall Children's Hospital at Legacy Emanuel · USSatellite Healthcare (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMyelin figures, or zebra bodies, seen on electron microscopy were historically considered pathognomonic of Fabry disease, a rare lysosomal storage disorder caused by alpha-galactosidase A deficiency and associated with X-linked recessive mode of inheritance. More recently, iatrogenic phospholipidosis has emerged as an important alternate cause of myelin figures in the kidney.

methodsWe report two families with autosomal dominant nephropathy presenting with proteinuria and microscopic hematuria, and the kidney biopsies were notable for the presence of myelin figures and zebra bodies.

resultsLaboratory and genetic work-up for Fabry disease was negative. Genetic testing in both families revealed the same heterozygous missense mutation in LMX1B (C.737G>A, p.Arg246Gln). LMX1B mutations are known to cause nail-patella syndrome, featuring dysplastic nails and patella with or without nephropathy, as well as isolated LMX1B-associated nephropathy in the absence of extrarenal manifestations.

conclusionsLMX1B mutation-associated nephropathy should be considered in hereditary cases of proteinuria and/or hematuria, even in the absence of unique glomerular basement membrane changes indicative of nail-patella syndrome. In addition, LMX1B mutation should be included in the differential diagnosis of myelin figures and zebra bodies on kidney biopsy, so as to avoid a misdiagnosis.

Indexed as

LIM-Homeodomain ProteinsTranscription FactorsAdultChildDiagnosis, DifferentialFabry DiseaseHumansKidney DiseasesMutation, MissenseMyelin SheathRetrospective StudiesLIM homeobox transcription factor 1 betaLIM-Homeodomain ProteinsTranscription FactorsFabry diseaseLMX1BMyelin bodiesNail-patella syndrome

Identifiers

PMID32356190
OpenAlexW3022529256

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Registered trials

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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.