Case report : a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)
BACKGROUND: Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before.
CASE PRESENTATION: Here we report a 3-year and 11-month old Chinese girl with short stature who had a karyotype of 46,X,i(X)(q10) and a de novo pathogenic variant in the CLCN5 gene on the short arm of X chromosome. Laboratory examinations showed that the patient had LMWP, hypercalciuria, hypophosphatemia, delayed bone age, and genital dysplasia.
CONCLUSION: The combination of i(X)(q10) and CLCN5 mutation causes the deletion of the wild-type CLCN5 allele that results in Dent-1 and TS. To the best of our knowledge, this is the first case that a female CLCN5 mutation hemizygote is diagnosed with Dent-1 and Turner syndrome due to isochromosome X. Also, our case has indicated that the prevalence of the situation may be largely underestimated because of the mild signs of females with Dent-1.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:21 |
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| Enthalten in: |
BMC nephrology - 21(2020), 1 vom: 11. Mai, Seite 171 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Ye, Yuhong [VerfasserIn] |
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| Links: |
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| Themen: |
CLC-5 chloride channel |
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| Anmerkungen: |
Date Completed 09.09.2021 Date Revised 09.09.2021 published: Electronic Citation Status MEDLINE |
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| doi: |
10.1186/s12882-020-01827-4 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM309763584 |
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| 245 | 1 | 0 | |a Case report |b a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq) |
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| 500 | |a Date Completed 09.09.2021 | ||
| 500 | |a Date Revised 09.09.2021 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a BACKGROUND: Female Dent disease 1 patients with low-molecular-weight proteinuria (LMWP) due to CLCN5 gene mutation were rarely reported, and these cases that the people were also with Turner syndrome (TS) were even hardly documented before | ||
| 520 | |a CASE PRESENTATION: Here we report a 3-year and 11-month old Chinese girl with short stature who had a karyotype of 46,X,i(X)(q10) and a de novo pathogenic variant in the CLCN5 gene on the short arm of X chromosome. Laboratory examinations showed that the patient had LMWP, hypercalciuria, hypophosphatemia, delayed bone age, and genital dysplasia | ||
| 520 | |a CONCLUSION: The combination of i(X)(q10) and CLCN5 mutation causes the deletion of the wild-type CLCN5 allele that results in Dent-1 and TS. To the best of our knowledge, this is the first case that a female CLCN5 mutation hemizygote is diagnosed with Dent-1 and Turner syndrome due to isochromosome X. Also, our case has indicated that the prevalence of the situation may be largely underestimated because of the mild signs of females with Dent-1 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a CLCN5 | |
| 650 | 4 | |a Dent disease 1 | |
| 650 | 4 | |a I(X)(q10) | |
| 650 | 4 | |a LMWP | |
| 650 | 4 | |a Turner syndrome | |
| 650 | 7 | |a CLC-5 chloride channel |2 NLM | |
| 650 | 7 | |a Chloride Channels |2 NLM | |
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| 700 | 1 | |a Quan, Xiaofang |e verfasserin |4 aut | |
| 700 | 1 | |a Xu, Ke |e verfasserin |4 aut | |
| 700 | 1 | |a Fu, Haidong |e verfasserin |4 aut | |
| 700 | 1 | |a Gu, Weiyue |e verfasserin |4 aut | |
| 700 | 1 | |a Mao, Jianhua |e verfasserin |4 aut | |
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