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Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report

BACKGROUND: Nephronophthisis (NPHP) is a chronic tubular interstitial disorder that exhibits an autosomal recessive genetic form and causes progressive renal failure in children. Patients with NPHP rarely show urinary abnormalities, edema, or hypertension. Thus, NPHP is often detected only when rena...

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Autores principales: Akira, Maiko, Suzuki, Hitoshi, Ikeda, Arisa, Iwasaki, Masako, Honda, Daisuke, Takahara, Hisatsugu, Rinno, Hisaki, Tomita, Shigeki, Suzuki, Yusuke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8272369/
https://www.ncbi.nlm.nih.gov/pubmed/34246230
http://dx.doi.org/10.1186/s12882-021-02466-z
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author Akira, Maiko
Suzuki, Hitoshi
Ikeda, Arisa
Iwasaki, Masako
Honda, Daisuke
Takahara, Hisatsugu
Rinno, Hisaki
Tomita, Shigeki
Suzuki, Yusuke
author_facet Akira, Maiko
Suzuki, Hitoshi
Ikeda, Arisa
Iwasaki, Masako
Honda, Daisuke
Takahara, Hisatsugu
Rinno, Hisaki
Tomita, Shigeki
Suzuki, Yusuke
author_sort Akira, Maiko
collection PubMed
description BACKGROUND: Nephronophthisis (NPHP) is a chronic tubular interstitial disorder that exhibits an autosomal recessive genetic form and causes progressive renal failure in children. Patients with NPHP rarely show urinary abnormalities, edema, or hypertension. Thus, NPHP is often detected only when renal failure becomes advanced. NPHP can be divided into three types based on the age of end-stage renal failure, i.e., infant type (approximately 5 years old), juvenile type (approximately 13–14 years old), and adolescent type (approximately 19 years old). Here, we report a case of NPHP diagnosed by genetic analysis at 26 years of age with atypical histological abnormalities. CASE PRESENTATION: A 26-year-old woman showed no growth disorders or urinary abnormalities in annual school physical examinations. However, at a check-up at 26 years old, she exhibited renal dysfunction (eGFR 26 mL/min/1.73 m(2)). Urine tests indicated low specific gravity of urine, but not proteinuria or microscopic hematuria. Urinary β2-microglobulin was high (805 μg/L), and renal biopsy was performed for definitive diagnosis. Histological findings showed no significant findings in glomeruli. However, moderate fibrosis was observed in the interstitial area, and moderate atrophy was observed in the tubules. There were no significant findings in immunofluorescence analysis, and no electron dense deposits were detected by electron microscopy. Although cyst-like expansion of the tubules was unclear, tubular atrophy was dominantly found in the distal tubule by cytokeratin 7 staining. Genetic analysis of the NPHP1 gene showed complete deletion of this gene, leading to a definitive diagnosis of NPHP. CONCLUSIONS: NPHP is not merely a pediatric disease and is relatively high incidence in patients with adult onset end-stage of renal disease. In this case, typical histological abnormalities, such as cyst-like expansion of the tubular lesion, were not observed, and diagnosis was achieved by genetic analysis of the NPHP1 gene, which is responsible for the onset of NPHP. In patients with renal failure with tubular interstitial disease dominantly in the distal tubules, it is necessary to discriminate NPHP, even in adult cases.
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spelling pubmed-82723692021-07-12 Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report Akira, Maiko Suzuki, Hitoshi Ikeda, Arisa Iwasaki, Masako Honda, Daisuke Takahara, Hisatsugu Rinno, Hisaki Tomita, Shigeki Suzuki, Yusuke BMC Nephrol Case Report BACKGROUND: Nephronophthisis (NPHP) is a chronic tubular interstitial disorder that exhibits an autosomal recessive genetic form and causes progressive renal failure in children. Patients with NPHP rarely show urinary abnormalities, edema, or hypertension. Thus, NPHP is often detected only when renal failure becomes advanced. NPHP can be divided into three types based on the age of end-stage renal failure, i.e., infant type (approximately 5 years old), juvenile type (approximately 13–14 years old), and adolescent type (approximately 19 years old). Here, we report a case of NPHP diagnosed by genetic analysis at 26 years of age with atypical histological abnormalities. CASE PRESENTATION: A 26-year-old woman showed no growth disorders or urinary abnormalities in annual school physical examinations. However, at a check-up at 26 years old, she exhibited renal dysfunction (eGFR 26 mL/min/1.73 m(2)). Urine tests indicated low specific gravity of urine, but not proteinuria or microscopic hematuria. Urinary β2-microglobulin was high (805 μg/L), and renal biopsy was performed for definitive diagnosis. Histological findings showed no significant findings in glomeruli. However, moderate fibrosis was observed in the interstitial area, and moderate atrophy was observed in the tubules. There were no significant findings in immunofluorescence analysis, and no electron dense deposits were detected by electron microscopy. Although cyst-like expansion of the tubules was unclear, tubular atrophy was dominantly found in the distal tubule by cytokeratin 7 staining. Genetic analysis of the NPHP1 gene showed complete deletion of this gene, leading to a definitive diagnosis of NPHP. CONCLUSIONS: NPHP is not merely a pediatric disease and is relatively high incidence in patients with adult onset end-stage of renal disease. In this case, typical histological abnormalities, such as cyst-like expansion of the tubular lesion, were not observed, and diagnosis was achieved by genetic analysis of the NPHP1 gene, which is responsible for the onset of NPHP. In patients with renal failure with tubular interstitial disease dominantly in the distal tubules, it is necessary to discriminate NPHP, even in adult cases. BioMed Central 2021-07-10 /pmc/articles/PMC8272369/ /pubmed/34246230 http://dx.doi.org/10.1186/s12882-021-02466-z Text en © The Author(s) 2021, corrected publication 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Akira, Maiko
Suzuki, Hitoshi
Ikeda, Arisa
Iwasaki, Masako
Honda, Daisuke
Takahara, Hisatsugu
Rinno, Hisaki
Tomita, Shigeki
Suzuki, Yusuke
Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report
title Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report
title_full Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report
title_fullStr Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report
title_full_unstemmed Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report
title_short Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report
title_sort atypical histological abnormalities in an adult patient with nephronophthisis harboring nphp1 deletion: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8272369/
https://www.ncbi.nlm.nih.gov/pubmed/34246230
http://dx.doi.org/10.1186/s12882-021-02466-z
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