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Chinese clinical practice guide for autosomal dominant polycystic kidney disease

Linchuang shenzangbing zazhi, 2019
常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)是最常见的遗传性肾病,患病率为1/400～1/1000[1]。ADPKD主要致病基因有两个,PKD1和PKD2,其突变导致疾病分别约占发病人群的85%和15%[2-3]。该病为常染色体显性遗传病,子代发病机率为50%。患者多在成年后出现双侧肾脏囊肿,随年龄增长,逐渐损害肾脏结构和功能[4 ...
Expert Committee on Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
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Relevance of ultrasound examination in general practice. A case report of a patient with autosomal dominant polycystic kidney disease [PDF]

Journal of Ultrasonography, 2013
Autosomal dominant polycystic kidney disease is a genetic disorder which results in the development of multiple cysts in the kidneys and other parenchymal organs. The two genes in which mutations are known to cause autosomal dominant polycystic kidney
Izabela Cwojdzińska-Jankowska, Anna Plewa   +1 more
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Case report: Atypical polycystic kidney disease

Radiology Case Reports, 2021
Atypical or unilateral polycystic kidney disease is a rare entity that is found incidentally and is characterized on imaging as asymmetric or unilateral distribution of cysts confined to the kidneys. We present a case of an incidental finding of atypical
Christopher Shin, MD, Leonard Berliner, MD   +1 more
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Sociodemographic characteristics and clinical features of patients with adult polycystic kidney disease undergoing hemodialysis [PDF]

, 2013
Aims: To analyze the socio-demographic and clinical characteristics of patients with adult polycystic kidney disease admitted to hemodialysis services in Northwestern Paraná state, Brazil.
Tsuneto, Luiza Tamie, Carvalho, Maria Dalva de Barros, de Freitas, Rosane Almeida, Borelli, Sueli Donizete, Gravena, Ângela Andréia França, Pelloso, Sandra Marisa, Campos Cadidé, Renata, Donizete Borelli, Sueli, Dalva Barros Carvalho, Maria, Almeida, Rosana, Tamie Tsuneto, Luiza, Cadidé, Renata Campos, Alves, Everton Fernando, Andréia França Gravena, Ângela   +13 more
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Autosomal dominant polycystic kidney disease in hemodialysis patients in southern Brazil [PDF]

, 2014
INTRODUCTION: Autosomal dominant polycystic kidney disease is the most common hereditary renal disease in humans. OBJECTIVE: To examine the prevalence, clinical and laboratory characteristics of patients with polycystic kidneys and relate disease ...
Torres, Paulo Roberto Aranha, Tsuneto, Luiza Tamie, Silva, Letícia Nicoletti, Carvalho, Maria Dalva de Barros, Sandra Marisa Pelloso, Luiza Tamie Tsuneto, Obregon, José Miguel Viscarra, Everton Fernando Alves, Guido Luis Gomes Otto, Maria Dalva de Barros Carvalho, Pelloso, Sandra Marisa, Silva, Adaelson Alves, Paulo Roberto Aranha Torres, Adaelson Alves Silva, Jose Miguel Viscarra Obregon, Leticia Nicoletti Silva, Alves, Everton Fernando, Otto, Guido Luis Gomes   +17 more
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Causal relationship between polycystic ovary syndrome and chronic kidney disease: A Mendelian randomization study

Frontiers in Endocrinology, 2023
ObjectivePolycystic ovary syndrome is one of the most common endocrine disorders among women of childbearing age. The relationship between polycystic ovary syndrome and chronic kidney disease remains unclear and controversial.
Yufei Du, Fengao Li, Shiwei Li, Li Ding, Ming Liu   +4 more
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Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study [PDF]

, 2013
Treatment options for autosomal dominant polycystic kidney disease (ADPKD) will likely become available in the near future, hence reliable diagnostic and prognostic biomarkers for the disease are strongly needed.
Torres, Vicente E., Poster, D., Andreas D. Kistler, Fabienne Krauer, Kistler Andreas D., Grantham, J.J., Serra, AL, Grantham, Jared J, James E. Bost, Mischak Harald, Bost, J.E., Bost James E., Arlene B Chapman, Chapman, AB, Mrug, M., Wüthrich Rudolf P., Grantham Jared J., Justyna Siwy (103595), Andreas L. Serra (103592), Arlene B. Chapman (103480), Diane Poster (36083), Justyna Siwy, Poster Diane, Bost, James E., Rudolf P. Wüthrich (103623), Krauer, F., Torres, V.E., Mischak, Harald, Serra Andreas L., Wüthrich, Rudolf P, Wüthrich, RP, Kyongtae T. Bae, Bae, KT, James E. Bost (103618), Kistler, AD, Poster, Diane, Siwy, J., Michal Mrug (103606), Grantham, JJ, Bae, Kyongtae T., Serra, Andreas L, Grantham, Jared J., Vicente E. Torres, Torres Vicente E., Mullen, W., Chapman, Arlene B., Bae, Kyongtae T, Fabienne Krauer (103598), Bae, K.T., Bost, James E, Chapman Arlene B., Jared J Grantham, Mullen, W, Vicente E. Torres (103602), Mullen, William, Mrug, M, Andreas D Kistler, Kyongtae T Bae, Siwy, Justyna, Krauer, F, Mischak, H., Mrug, Michal, Wüthrich, Rudolf P., Torres, Vicente E, Andreas L Serra, Harald Mischak (103627), Jared J. Grantham (103610), Krauer, Fabienne, Bost, JE, Rudolf P. Wüthrich, Mrug Michal, Diane Poster, Wuethrich, Rudolf P., Serra, Andreas L., Serra, A.L., William Mullen (103621), William Mullen, Chapman, A.B., Vicente E Torres, Chapman, Arlene B, James E Bost, Mischak, H, Jared J. Grantham, Siwy Justyna, Andreas L. Serra, Kyongtae T. Bae (103614), Wüthrich, R.P., Michal Mrug, Kistler, Andreas D., Poster, D, Krauer Fabienne, Siwy, J, Mullen William, Kistler, A.D., Harald Mischak, Arlene B. Chapman, Torres, VE, Andreas D. Kistler (103588), Bae Kyongtae T., Bae, Kyong Tae, Rudolf P Wüthrich, Kistler, Andreas D   +101 more
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A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8 [PDF]

, 2012
Background Nephronophthisis (NPHP) as a cause of cystic kidney disease is the most common genetic cause of progressive renal failure in children and young adults.
Morahan, G., Mathew I Bellgard, Roberto A Barrero, Morahan, G, McCooke, J.K., Bellgard, MI, Jacqueline K Phillips, Ding, A., John K McCooke, Appels, R, Grant Morahan, Phillips, J.K., Justyna E Ozimek-Kulik, Phillips, JK, Bellgard, M.I., Barrero, RA, McCooke, JK, Appels, R., Barrero, R.A., Ozimek-Kulik, J.E., Rudi Appels, Alice Ding, Ozimek-Kulik, JE, Ding, A   +23 more
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Proximal Tubulopathy With Fibrillary Inclusions: A Rare Manifestation of Lymphoma-Associated Monoclonal Gammopathy of Renal Significance (MGRS)

Kidney Medicine, 2019
Light chain proximal tubulopathy is a rare M-proteinemia–related nephropathy. The inclusions, composed of light chains in light chain proximal tubulopathy, are generally crystalline, and most exhibit a rhombic shape.
Ayami Ino, Kanoko Yamaguchi, Sekiko Taneda, Shiho Makabe, Yoshie Wakayama, Hiroshi Kataoka, Junji Tanaka, Kosaku Nitta, Toshio Mochizuki   +8 more
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Polycystic kidney disease: The complete structure of the PKD1 gene and its protein [PDF]

, 1995
Mutations in the PKD1 gene are the most common cause of autosomal dominant polycystic kidney disease (ADPKD). Other PKD1-like loci on chromosome 16 are approximately 97% identical to PKD1. To determine the authentic PKD1 sequence, we obtained the genomic
The International Polycystic Kidney Disease Consortium,
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