Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis

Fujimaru, Takuya; Kawanishi, Kunio; Mori, Takayasu; Mishima, Eikan; Sekine, Akinari; Chiga, Motoko; Mizui, Masayuki; Sato, Noriaki; Yanagita, Motoko; Ooki, Yuki; Nagahama, Kiyotaka; Ohnuki, Yuko; Hamano, Naoto; Watanabe, Saki; Mochizuki, Toshio; Nagatsuji, Katsushi; Tanaka, Kenichi; Tsukamoto, Tatsuo; Tsushima, Hideo; Shimamoto, Mamiko; Tsuji, Takeshi; Kuyama, Tamaki; Kawamoto, Shinya; Maki, Kenji; Katsuma, Ai; Oishi, Mariko; Yamamoto, Kouhei; Mandai, Shintaro; Kikuchi, Hiroaki; Ando, Fumiaki; Mori, Yutaro; Susa, Koichiro; Iimori, Soichiro; Naito, Seiji; Rai, Tatemitsu; Hoshino, Junichi; Ubara, Yoshifumi; Miyazaki, Mariko; Nagata, Michio; Uchida, Shinichi; Sohara, Eisei

doi:10.1016/j.ekir.2021.02.005

Cited by 19 publications

(17 citation statements)

References 36 publications

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“…This particularly applies to the homozygous NPHP1 deletion. 17, 18 Similarly, distinctive NPHP3 variants have been reported to cause late onset NPH in contrast to the majority of patients displaying an infantile disease course. [19][20][21] Despite the large number of identified NPHP genes, only a few of them are of relevance in routine clinical practice, namely NPHP1, NPHP3, NPHP4, and NPHP11/TMEM67.…”

Section: Discussionmentioning

confidence: 99%

“…This is in line with previous case reports and the recent awareness of NPHP1 variants being responsible for a remarkable number of adult-onset ESKD. 12,13,[16][17][18] Biallelic variants in NPHP3 were originally described in a Venezuelan pedigree presenting with late onset ESKD. 15,19 Recent reports identified NPHP3 variants as one of the most relevant genetic causes for infantile NPH.…”

Section: Discussionmentioning

confidence: 99%

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Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Karsay

Schlingmann

Telgmann

et al. 2022

Kidney International Reports

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Karsay

Schlingmann

Telgmann

et al. 2022

Kidney International Reports

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“…A diagnosis is based on clinical characteristics and confirmed by genetic testing [ 80 , 83 , 92 ]. However, as two-thirds of all cases have no clear gene mutation, a renal biopsy may be considered for a definitive diagnosis.…”

Section: Cystic Kidney Diseases That Require a Differential Diagnosis...mentioning

confidence: 99%

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Sekine

Hidaka

Moriyama

et al. 2022

JCM

Self Cite

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Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in which family history is unclear, a differential diagnosis between ADPKD and other cystic kidney diseases is important. When diagnosing ADPKD, cystic kidney diseases that can easily be excluded using clinical information include: multiple simple renal cysts, acquired cystic kidney disease (ACKD), multilocular renal cyst/multilocular cystic nephroma/polycystic nephroma, multicystic kidney/multicystic dysplastic kidney (MCDK), and unilateral renal cystic disease (URCD). However, there are other cystic kidney diseases that usually require genetic testing, or another means of supplementing clinical information to enable a differential diagnosis of ADPKD. These include autosomal recessive polycystic kidney disease (ARPKD), autosomal dominant tubulointerstitial kidney disease (ADTKD), nephronophthisis (NPH), oral-facial-digital (OFD) syndrome type 1, and neoplastic cystic kidney disease, such as tuberous sclerosis (TSC) and Von Hippel-Lindau (VHL) syndrome. To help physicians evaluate cystic kidney diseases, this article provides a review of cystic kidney diseases for which a differential diagnosis is required for ADPKD.

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“…The role of CEP164 in spermatogenesis remains to be explored. Mutations in CEP164 have been identified in a host of ciliopathy patients including nephronophthisis, BBS, PCD, and oral-facial-digital syndrome [134][135][136][137][138], but male reproductive phenotypes have not been reported.…”

Section: Mouse Models With Defective Multicilia In Efferent Ductsmentioning

confidence: 99%

Essential Roles of Efferent Duct Multicilia in Male Fertility

Hoque

Kim

Chen

et al. 2022

Cells

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Cilia are microtubule-based hair-like organelles on the cell surface. Cilia have been implicated in various biological processes ranging from mechanosensation to fluid movement. Ciliary dysfunction leads to a plethora of human diseases, known as ciliopathies. Although non-motile primary cilia are ubiquitous, motile multicilia are found in restricted locations of the body, such as the respiratory tract, the oviduct, the efferent duct, and the brain ventricles. Multicilia beat in a whip-like motion to generate fluid flow over the apical surface of an epithelium. The concerted ciliary motion provides the driving force critical for clearing airway mucus and debris, transporting ova from the ovary to the uterus, maintaining sperm in suspension, and circulating cerebrospinal fluid in the brain. In the male reproductive tract, multiciliated cells (MCCs) were first described in the mid-1800s, but their importance in male fertility remained elusive until recently. MCCs exist in the efferent ducts, which are small, highly convoluted tubules that connect the testis to the epididymis and play an essential role in male fertility. In this review, we will introduce multiciliogenesis, discuss mouse models of male infertility with defective multicilia, and summarize our current knowledge on the biological function of multicilia in the male reproductive tract.

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Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis

Cited by 19 publications

References 36 publications

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Essential Roles of Efferent Duct Multicilia in Male Fertility

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