Primary hyperoxaluria detected by bone marrow biopsy: case report View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-09-20

AUTHORS

F. Nachite, M. Dref, A. Fakhri, H. Rais

ABSTRACT

BackgroundPrimary hyperoxaluria is a rare disease with an estimated prevalence of 1 to 3 cases per million. It is due to a hepatic enzyme deficiency responsible for an endogenous overproduction of oxalate. Oxalate crystals commonly deposit in the kidney and more rarely in bone marrow.The literature has reported, to the best of our knowledge, only two cases of hyperoxaluria diagnosed by bone marrow biopsy and our case is the only one that does not show radiological bone lesions.Case presentationA young 22 year old chronic hemodialysis patient with nephrocalcinosis. The patient had a personal and family history of recurrent kidney stones. He presented bone pain with worsening of his general state. On physical examination, no organomegaly was detected. Biological check-up showed only a normochromic and normocytic regenerative anemia resistant to treatment and a bone marrow biopsy was performed. It showed deposits of crystals of oxalate in the bone marrow surrounded by inflammatory reaction against foreign bodies. Given our context, no liver biopsy or genetic studies, which are gold standard of diagnosis testing, were done. The diagnosis of primary hyperoxaluria was made based on morphological characteristics of crystals, his medical and family history, and the absence of any secondary cause of the condition. Since curative treatment is not available in our country, the patient only receives a palliative treatment.ConclusionPrimary hyperoxaluria is rarely evoked by the histological study of a bone marrow biopsy. The lack of the possibility of the only effective treatment in our context and the diagnosis, usually late, of this pathology are at the origin of the fatal evolution of the disease in almost all the cases. More... »

PAGES

20

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12907-017-0059-7

DOI

http://dx.doi.org/10.1186/s12907-017-0059-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1091875753

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28943803


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Pathology, FMFM-UCAM-CHU Mohammed VI-50 Assif, 40000, Marrakech, Morocco", 
          "id": "http://www.grid.ac/institutes/grid.414422.5", 
          "name": [
            "Department of Pathology, FMFM-UCAM-CHU Mohammed VI-50 Assif, 40000, Marrakech, Morocco"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nachite", 
        "givenName": "F.", 
        "id": "sg:person.016165345325.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016165345325.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pathology, FMFM-UCAM-CHU Mohammed VI-50 Assif, 40000, Marrakech, Morocco", 
          "id": "http://www.grid.ac/institutes/grid.414422.5", 
          "name": [
            "Department of Pathology, FMFM-UCAM-CHU Mohammed VI-50 Assif, 40000, Marrakech, Morocco"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dref", 
        "givenName": "M.", 
        "id": "sg:person.011536241343.76", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011536241343.76"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pathology, FMFM-UCAM-CHU Mohammed VI-50 Assif, 40000, Marrakech, Morocco", 
          "id": "http://www.grid.ac/institutes/grid.414422.5", 
          "name": [
            "Department of Pathology, FMFM-UCAM-CHU Mohammed VI-50 Assif, 40000, Marrakech, Morocco"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fakhri", 
        "givenName": "A.", 
        "id": "sg:person.01254054144.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01254054144.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pathology, FMFM-UCAM-CHU Mohammed VI-50 Assif, 40000, Marrakech, Morocco", 
          "id": "http://www.grid.ac/institutes/grid.414422.5", 
          "name": [
            "Department of Pathology, FMFM-UCAM-CHU Mohammed VI-50 Assif, 40000, Marrakech, Morocco"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rais", 
        "givenName": "H.", 
        "id": "sg:person.01322167344.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322167344.56"
        ], 
        "type": "Person"
      }
    ], 
    "datePublished": "2017-09-20", 
    "datePublishedReg": "2017-09-20", 
    "description": "BackgroundPrimary hyperoxaluria is a rare disease with an estimated prevalence of 1 to 3 cases per million. It is due to a hepatic enzyme deficiency responsible for an endogenous overproduction of oxalate. Oxalate crystals commonly deposit in the kidney and more rarely in bone marrow.The literature has reported, to the best of our knowledge, only two cases of hyperoxaluria diagnosed by bone marrow biopsy and our case is the only one that does not show radiological bone lesions.Case presentationA young 22\u00a0year old chronic hemodialysis patient with nephrocalcinosis. The patient had a personal and family history of recurrent kidney stones. He presented bone pain with worsening of his general state. On physical examination, no organomegaly was detected. Biological check-up showed only a normochromic and normocytic regenerative anemia resistant to treatment and a bone marrow biopsy was performed. It showed deposits of crystals of oxalate in the bone marrow surrounded by inflammatory reaction against foreign bodies. Given our context, no liver biopsy or genetic studies, which are gold standard of diagnosis testing, were done. The diagnosis of primary hyperoxaluria was made based on morphological characteristics of crystals, his medical and family history, and the absence of any secondary cause of the condition. Since curative treatment is not available in our country, the patient only receives a palliative treatment.ConclusionPrimary hyperoxaluria is rarely evoked by the histological study of a bone marrow biopsy. The lack of the possibility of the only effective treatment in our context and the diagnosis, usually late, of this pathology are at the origin of the fatal evolution of the disease in almost all the cases.", 
    "genre": "article", 
    "id": "sg:pub.10.1186/s12907-017-0059-7", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1028422", 
        "issn": [
          "1472-6890"
        ], 
        "name": "BMC Clinical Pathology", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "17"
      }
    ], 
    "keywords": [
      "bone marrow biopsy", 
      "marrow biopsy", 
      "primary hyperoxaluria", 
      "family history", 
      "bone marrow", 
      "radiological bone lesions", 
      "chronic hemodialysis patients", 
      "only effective treatment", 
      "recurrent kidney stones", 
      "hepatic enzyme deficiency", 
      "case of hyperoxaluria", 
      "BackgroundPrimary hyperoxaluria", 
      "bone pain", 
      "Case presentationA", 
      "palliative treatment", 
      "hemodialysis patients", 
      "liver biopsy", 
      "fatal evolution", 
      "curative treatment", 
      "physical examination", 
      "bone lesions", 
      "case report", 
      "secondary causes", 
      "deposits of crystals", 
      "inflammatory reaction", 
      "foreign body", 
      "effective treatment", 
      "rare disease", 
      "endogenous overproduction", 
      "hyperoxaluria", 
      "biopsy", 
      "histological study", 
      "patients", 
      "kidney stones", 
      "diagnosis testing", 
      "gold standard", 
      "enzyme deficiency", 
      "treatment", 
      "marrow", 
      "disease", 
      "diagnosis", 
      "oxalate crystals", 
      "pain", 
      "organomegaly", 
      "nephrocalcinosis", 
      "anemia", 
      "general state", 
      "lesions", 
      "cases", 
      "kidney", 
      "prevalence", 
      "pathology", 
      "genetic studies", 
      "history", 
      "cause", 
      "examination", 
      "study", 
      "deficiency", 
      "report", 
      "overproduction", 
      "stones", 
      "morphological characteristics", 
      "absence", 
      "testing", 
      "oxalate", 
      "lack", 
      "only ones", 
      "body", 
      "literature", 
      "knowledge", 
      "standards", 
      "countries", 
      "origin", 
      "characteristics", 
      "possibility", 
      "reaction", 
      "conditions", 
      "context", 
      "state", 
      "deposits", 
      "one", 
      "evolution", 
      "crystals"
    ], 
    "name": "Primary hyperoxaluria detected by bone marrow biopsy: case report", 
    "pagination": "20", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1091875753"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s12907-017-0059-7"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "28943803"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s12907-017-0059-7", 
      "https://app.dimensions.ai/details/publication/pub.1091875753"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-12-01T06:36", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20221201/entities/gbq_results/article/article_744.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1186/s12907-017-0059-7"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s12907-017-0059-7'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s12907-017-0059-7'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s12907-017-0059-7'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s12907-017-0059-7'


 

This table displays all metadata directly associated to this object as RDF triples.

164 TRIPLES      20 PREDICATES      108 URIs      100 LITERALS      7 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s12907-017-0059-7 schema:about anzsrc-for:11
2 anzsrc-for:1103
3 schema:author Nec1a5c1e55cc4215ab9569de4ea5d148
4 schema:datePublished 2017-09-20
5 schema:datePublishedReg 2017-09-20
6 schema:description BackgroundPrimary hyperoxaluria is a rare disease with an estimated prevalence of 1 to 3 cases per million. It is due to a hepatic enzyme deficiency responsible for an endogenous overproduction of oxalate. Oxalate crystals commonly deposit in the kidney and more rarely in bone marrow.The literature has reported, to the best of our knowledge, only two cases of hyperoxaluria diagnosed by bone marrow biopsy and our case is the only one that does not show radiological bone lesions.Case presentationA young 22 year old chronic hemodialysis patient with nephrocalcinosis. The patient had a personal and family history of recurrent kidney stones. He presented bone pain with worsening of his general state. On physical examination, no organomegaly was detected. Biological check-up showed only a normochromic and normocytic regenerative anemia resistant to treatment and a bone marrow biopsy was performed. It showed deposits of crystals of oxalate in the bone marrow surrounded by inflammatory reaction against foreign bodies. Given our context, no liver biopsy or genetic studies, which are gold standard of diagnosis testing, were done. The diagnosis of primary hyperoxaluria was made based on morphological characteristics of crystals, his medical and family history, and the absence of any secondary cause of the condition. Since curative treatment is not available in our country, the patient only receives a palliative treatment.ConclusionPrimary hyperoxaluria is rarely evoked by the histological study of a bone marrow biopsy. The lack of the possibility of the only effective treatment in our context and the diagnosis, usually late, of this pathology are at the origin of the fatal evolution of the disease in almost all the cases.
7 schema:genre article
8 schema:isAccessibleForFree true
9 schema:isPartOf N52644fbc303c4aa28db81d4dc1a69966
10 Nbdd61464a39c4b978806974635272195
11 sg:journal.1028422
12 schema:keywords BackgroundPrimary hyperoxaluria
13 Case presentationA
14 absence
15 anemia
16 biopsy
17 body
18 bone lesions
19 bone marrow
20 bone marrow biopsy
21 bone pain
22 case of hyperoxaluria
23 case report
24 cases
25 cause
26 characteristics
27 chronic hemodialysis patients
28 conditions
29 context
30 countries
31 crystals
32 curative treatment
33 deficiency
34 deposits
35 deposits of crystals
36 diagnosis
37 diagnosis testing
38 disease
39 effective treatment
40 endogenous overproduction
41 enzyme deficiency
42 evolution
43 examination
44 family history
45 fatal evolution
46 foreign body
47 general state
48 genetic studies
49 gold standard
50 hemodialysis patients
51 hepatic enzyme deficiency
52 histological study
53 history
54 hyperoxaluria
55 inflammatory reaction
56 kidney
57 kidney stones
58 knowledge
59 lack
60 lesions
61 literature
62 liver biopsy
63 marrow
64 marrow biopsy
65 morphological characteristics
66 nephrocalcinosis
67 one
68 only effective treatment
69 only ones
70 organomegaly
71 origin
72 overproduction
73 oxalate
74 oxalate crystals
75 pain
76 palliative treatment
77 pathology
78 patients
79 physical examination
80 possibility
81 prevalence
82 primary hyperoxaluria
83 radiological bone lesions
84 rare disease
85 reaction
86 recurrent kidney stones
87 report
88 secondary causes
89 standards
90 state
91 stones
92 study
93 testing
94 treatment
95 schema:name Primary hyperoxaluria detected by bone marrow biopsy: case report
96 schema:pagination 20
97 schema:productId N05f28b7907144289a3aabf749800a0eb
98 N75a0b4da464e45c08c672889c4a143f3
99 Nc5c364ec843344589a56768f4f2517cc
100 schema:sameAs https://app.dimensions.ai/details/publication/pub.1091875753
101 https://doi.org/10.1186/s12907-017-0059-7
102 schema:sdDatePublished 2022-12-01T06:36
103 schema:sdLicense https://scigraph.springernature.com/explorer/license/
104 schema:sdPublisher Nc3a542a578b346f694a77a7ef3d252d9
105 schema:url https://doi.org/10.1186/s12907-017-0059-7
106 sgo:license sg:explorer/license/
107 sgo:sdDataset articles
108 rdf:type schema:ScholarlyArticle
109 N05f28b7907144289a3aabf749800a0eb schema:name pubmed_id
110 schema:value 28943803
111 rdf:type schema:PropertyValue
112 N23683ef6e89d4ef999aac16ffae38c8b rdf:first sg:person.011536241343.76
113 rdf:rest N99b2682020df4d8c971cc2a705d11257
114 N52644fbc303c4aa28db81d4dc1a69966 schema:volumeNumber 17
115 rdf:type schema:PublicationVolume
116 N75a0b4da464e45c08c672889c4a143f3 schema:name dimensions_id
117 schema:value pub.1091875753
118 rdf:type schema:PropertyValue
119 N99b2682020df4d8c971cc2a705d11257 rdf:first sg:person.01254054144.05
120 rdf:rest Nb96a18e435e246c0aab51335ed418a05
121 Nb96a18e435e246c0aab51335ed418a05 rdf:first sg:person.01322167344.56
122 rdf:rest rdf:nil
123 Nbdd61464a39c4b978806974635272195 schema:issueNumber 1
124 rdf:type schema:PublicationIssue
125 Nc3a542a578b346f694a77a7ef3d252d9 schema:name Springer Nature - SN SciGraph project
126 rdf:type schema:Organization
127 Nc5c364ec843344589a56768f4f2517cc schema:name doi
128 schema:value 10.1186/s12907-017-0059-7
129 rdf:type schema:PropertyValue
130 Nec1a5c1e55cc4215ab9569de4ea5d148 rdf:first sg:person.016165345325.69
131 rdf:rest N23683ef6e89d4ef999aac16ffae38c8b
132 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
133 schema:name Medical and Health Sciences
134 rdf:type schema:DefinedTerm
135 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
136 schema:name Clinical Sciences
137 rdf:type schema:DefinedTerm
138 sg:journal.1028422 schema:issn 1472-6890
139 schema:name BMC Clinical Pathology
140 schema:publisher Springer Nature
141 rdf:type schema:Periodical
142 sg:person.011536241343.76 schema:affiliation grid-institutes:grid.414422.5
143 schema:familyName Dref
144 schema:givenName M.
145 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011536241343.76
146 rdf:type schema:Person
147 sg:person.01254054144.05 schema:affiliation grid-institutes:grid.414422.5
148 schema:familyName Fakhri
149 schema:givenName A.
150 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01254054144.05
151 rdf:type schema:Person
152 sg:person.01322167344.56 schema:affiliation grid-institutes:grid.414422.5
153 schema:familyName Rais
154 schema:givenName H.
155 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322167344.56
156 rdf:type schema:Person
157 sg:person.016165345325.69 schema:affiliation grid-institutes:grid.414422.5
158 schema:familyName Nachite
159 schema:givenName F.
160 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016165345325.69
161 rdf:type schema:Person
162 grid-institutes:grid.414422.5 schema:alternateName Department of Pathology, FMFM-UCAM-CHU Mohammed VI-50 Assif, 40000, Marrakech, Morocco
163 schema:name Department of Pathology, FMFM-UCAM-CHU Mohammed VI-50 Assif, 40000, Marrakech, Morocco
164 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...