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Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation

BACKGROUND: Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms i...

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Autores principales: Nakata, Tomohiro, Ishida, Ryo, Mihara, Yuu, Fujii, Atsuko, Inoue, Yoshimoto, Kusaba, Tetsuro, Isojima, Tsuyoshi, Harita, Yutaka, Kanda, Chiaki, Kitanaka, Sachiko, Tamagaki, Keiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363042/
https://www.ncbi.nlm.nih.gov/pubmed/28335748
http://dx.doi.org/10.1186/s12882-017-0516-7
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author Nakata, Tomohiro
Ishida, Ryo
Mihara, Yuu
Fujii, Atsuko
Inoue, Yoshimoto
Kusaba, Tetsuro
Isojima, Tsuyoshi
Harita, Yutaka
Kanda, Chiaki
Kitanaka, Sachiko
Tamagaki, Keiichi
author_facet Nakata, Tomohiro
Ishida, Ryo
Mihara, Yuu
Fujii, Atsuko
Inoue, Yoshimoto
Kusaba, Tetsuro
Isojima, Tsuyoshi
Harita, Yutaka
Kanda, Chiaki
Kitanaka, Sachiko
Tamagaki, Keiichi
author_sort Nakata, Tomohiro
collection PubMed
description BACKGROUND: Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms in a patient with NPS. CASE PRESENTATION: A 24-year-old woman presented to our hospital with knee pain. She had poorly developed nails, hypoplastic patellas, dislocation of the elbows, and iliac horns in the pelvis. At the age of 7, she developed nephrotic syndrome and was diagnosed with primary focal segmental glomerulosclerosis by renal biopsy. She received long-term corticosteroid therapy with no obvious response. Her clinical course and orthopedic manifestations indicated NPS, and a genetic analysis showed a de novo mutation in the LMX1B gene (c.819 + 1G > A). Nephropathy in this case was considered to be associated with NPS. Therefore, we discontinued corticosteroids without the exacerbation of nephrotic syndrome. CONCLUSIONS: Patients with NPS may develop nephrotic syndrome prior to overt orthopedic symptoms and only show non-specific findings in renal biopsy at an early stage of NPS nephropathy. Hereditary nephrotic syndrome, often presenting as childhood-onset SRNS, may also be difficult to diagnose in patients with the following conditions: renal symptoms prior to overt extrarenal symptoms, de novo mutations, and non-specific findings in renal biopsy. Therefore, in the management of SRNS in children, we need to reconsider the possibility of hereditary diseases such as NPS even without a family history.
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spelling pubmed-53630422017-03-24 Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation Nakata, Tomohiro Ishida, Ryo Mihara, Yuu Fujii, Atsuko Inoue, Yoshimoto Kusaba, Tetsuro Isojima, Tsuyoshi Harita, Yutaka Kanda, Chiaki Kitanaka, Sachiko Tamagaki, Keiichi BMC Nephrol Case Report BACKGROUND: Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms in a patient with NPS. CASE PRESENTATION: A 24-year-old woman presented to our hospital with knee pain. She had poorly developed nails, hypoplastic patellas, dislocation of the elbows, and iliac horns in the pelvis. At the age of 7, she developed nephrotic syndrome and was diagnosed with primary focal segmental glomerulosclerosis by renal biopsy. She received long-term corticosteroid therapy with no obvious response. Her clinical course and orthopedic manifestations indicated NPS, and a genetic analysis showed a de novo mutation in the LMX1B gene (c.819 + 1G > A). Nephropathy in this case was considered to be associated with NPS. Therefore, we discontinued corticosteroids without the exacerbation of nephrotic syndrome. CONCLUSIONS: Patients with NPS may develop nephrotic syndrome prior to overt orthopedic symptoms and only show non-specific findings in renal biopsy at an early stage of NPS nephropathy. Hereditary nephrotic syndrome, often presenting as childhood-onset SRNS, may also be difficult to diagnose in patients with the following conditions: renal symptoms prior to overt extrarenal symptoms, de novo mutations, and non-specific findings in renal biopsy. Therefore, in the management of SRNS in children, we need to reconsider the possibility of hereditary diseases such as NPS even without a family history. BioMed Central 2017-03-23 /pmc/articles/PMC5363042/ /pubmed/28335748 http://dx.doi.org/10.1186/s12882-017-0516-7 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Nakata, Tomohiro
Ishida, Ryo
Mihara, Yuu
Fujii, Atsuko
Inoue, Yoshimoto
Kusaba, Tetsuro
Isojima, Tsuyoshi
Harita, Yutaka
Kanda, Chiaki
Kitanaka, Sachiko
Tamagaki, Keiichi
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation
title Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation
title_full Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation
title_fullStr Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation
title_full_unstemmed Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation
title_short Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation
title_sort steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo lmx1b mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363042/
https://www.ncbi.nlm.nih.gov/pubmed/28335748
http://dx.doi.org/10.1186/s12882-017-0516-7
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