Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic

1988 ◽  
Vol 79 (1) ◽  
pp. 73-75 ◽  
Author(s):  
Mich�le Ramsay ◽  
Stephen T. Reeders ◽  
Peter D. Thomson ◽  
Lawrence S. Milner ◽  
L. Lazarou ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

2001 ◽  
Vol 21 (5) ◽  
pp. 430-440 ◽  
Author(s):  
Ira D. Davis ◽  
Katherine MacRae Dell ◽  
William E. Sweeney ◽  
Ellis D. Avner
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney

Mutation variability at polycystic kidney disease detected by NGS

2020 ◽  
pp. 25-37
Author(s):  
Н.Н. Вассерман ◽  
А.В. Поляков
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Target Genes ◽  
Autosomal Dominant ◽  
Molecular Genetic Analysis ◽  
Polycystic Kidney ◽  
Parallel Sequencing ◽  
Pkd1 Gene ◽  
Autosomal Dominant Polycystic Kidney

Поликистозная болезнь почек (ПП) является клинически и генетически гетерогенной группой заболеваний, может наследоваться как аутосомно-доминантно (АД), так и аутосомно-рецессивно (АР). К развитию АР ПП приводят мутации в гене PKHD1. Большинство мутаций при АД ПП находят в гене PKD1 (80-85%). Примерно в 15% случаев мутации выявляют в гене PKD2. Клиническое и генетическое разнообразие ПП требует поиска мутаций в нескольких генах, поэтому он является трудоемким, дорогостоящим и требует много времени. Метод массового параллельного секвенирования (МПС) позволяет проводить поиск мутаций в нескольких генах одновременно независимо от их размера. Проведен поиск мутаций в 254 семьях с ПП методом МПС с использованием панели, включающей гены PKHD1, PKD1, PKD2, HNF1B и GANAB. Два варианта в гене PKHD1 было идентифицировано в 49 семьях (19%), один вариант найден в 9 случаях (3,5%); в гене PKD1 обнаружено 62 варианта (24,5%), в гене PKD2 - 6 вариантов (2,5%), в гене HNF1B - 9 вариантов (3,5%). В 119 семьях, что составило 47%, мутации найдены не были. У больных из семей с генеалогически установленным АД типом наследования в большинстве случаев (39 из 66; 59%) выявлены варианты в гене PKD1, приводящие к ПП. Из 59 изолированных случаев ПП в 17% (10 человек) идентифицированы 2 варианта в гене PНKD1, в 20% (12 человек) - в гене PKD1. При неизвестном типе наследования (129 случаев) в 29,5% (38 чел.) найдены 2 варианта в гене PНKD1, в 8,5% (11 чел.) - в гене PKD1, в 3% (4 чел.) - в гене PKD2, в 4% (5 чел.) - в гене HNF1B. Таким образом, МПС относительно быстро позволяет проводить молекулярно-генетический анализ одновременно в нескольких генах у больных с признаками ПП. Polycystic kidney disease is a heterogeneous group of autosomal dominant or autosomal recessive disorders with age of manifestation varying from prenatal period to adulthood. Autosomal recessive polycystic kidney disease is caused by mutations in the PKHD1 gene. Approximately 85% of all autosomal dominant polycystic kidney disease cases are caused by mutations in the PKD1 gene, and around 15% - by mutations in the PKD2 gene. All these genes are large, and mutations were found to be scattered throughout the genes without any clustering. Therefore, mutation detection requires a lot of time, money, and effort. Due to clinical and genetic diversity of polycystic kidney disease, the search for mutations has to be carried out in several genes. Mass parallel sequencing (MPS) allows to analyze several genes simultaneously regardless of their size. 254 families with polycystic kidney disease were examined using mass parallel sequencing with a gene panel that included PKHD1, PKD1, PKD2, HNF1B and GANAB. Two variants in PKHD1 were found in 49 families (19%), one variant - in 9 families (3.5%); in PKD1 62 variants were detected (24.5%), in PKD2 - 6 variants (2.5%), in HNF1B - 9 variants (3.5%). In 119 families (47%) there were no mutations in the target genes. Among 66 patients from families with autosomal dominant polycystic kidney disease, 39 patients (59%) had mutations in the PKD1 gene. Out of 59 sporadic cases, 10 patients (17%) had 2 variants in PНKD1, 12 patients (20%) - in PKD1. 38 patients (29.5%) out of 129 patients with unknown type of inheritance had 2 variants in PНKD1, 11 patients (8.5%) - in PKD1, 4 patients (3%) - in PKD2, 5 patients (4%) - in HNF1B. Mass parallel sequencing allows to carry out relatively rapid molecular genetic analysis of several genes simultaneously for patients with symptoms of polycystic kidney disease.

scholarly journals Treatment of autosomal recessive and autosomal dominant polycystic kidney disease

2019 ◽  
Vol 64 (2) ◽  
pp. 22-29
Author(s):  
E. F. Andreeva ◽  
N. D. Savenkova
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Kinase Inhibitor ◽  
Mtor Inhibitors ◽  
Somatostatin Analogues ◽  
Polycystic Kidney ◽  
V2 Receptor ◽  
Autosomal Dominant Polycystic Kidney

The article reflects the genetic variants of polycystic kidney disease, describes the modern strategy for the treatment of polycystic kidney disease in children and adults. The authors present the results of clinical trials of vasopressin V2 receptor antagonists (tolvaptan, liksivaptan), a multi-kinase inhibitor (tezevatinib), somatostatin analogues (lankreotide, octreotide), statins (pravastatin), mTOR inhibitors (everolimus, sirolimus), metformin in patients with autosomal recessive and autosomal polycystic kidney disease. The authors discuss the factors determining the prognosis and outcome of these diseases.

scholarly journals AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE IN THE STRUCTURE OF CYSTIC DYSPLASIA IN CHILDREN

2018 ◽  
Vol 63 (5) ◽  
pp. 172-176 ◽  
Author(s):  
T. P. Makarova ◽  
V. P. Bulatov ◽  
N. V. Samoylova ◽  
G. M. Samoylova ◽  
L. V. Poladova ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Laboratory ◽  
Renal Dysplasia ◽  
Polycystic Kidney ◽  
Cystic Renal Dysplasia ◽  
Congenital Kidney Anomalies ◽  
Autosomal Dominant Polycystic Kidney

Cystic dysplasia is a heterogeneous group of diseases, with 12–15% share in the structure of congenital kidney anomalies and 8–10% share in the structure of the causes of chronic renal failure in children. The article presents the results of observation of patients with polycystic kidney disease. To study the clinical features of the course of various forms of cystic dysplasia in children we analyzed the histories of children with autosomal recessive and autosomal dominant polycystic kidney disease. We revealed clinical, laboratory and instrumental features of the course of various types of cystic renal dysplasia.

scholarly journals Course of autosomal dominant and autosomal recessive polycystic kidney disease (ADPKD and ARPKD) wich detected in prenatal, neonatal and infant periods in children.

2019 ◽  
Vol 23 (5) ◽  
pp. 77-87
Author(s):  
E. F. Andreeva ◽  
N. D. Savenkova
Keyword(s):  
Kidney Disease ◽  
Liver Fibrosis ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Fatal Outcome ◽  
Renal Cysts ◽  
Kidney Volume ◽  
Polycystic Kidney ◽  
Total Kidney Volume

THE AIM: to characterize the features of the course of autosomal dominant (ADPKD) and autosomal recessive (ARPKD) polycystic kidney disease detected in the prenatal, neonatal and thoracic periods.PATIENTS AND METHODS: ADP was diagnosed in 28 and ARPP in 12 of 40 children and adolescents. The dynamics of the diameter of renal cysts (mm), total kidney volume (TKV, cm3) by ultrasound were evaluated; Constructed trend lines for average TKV and diameter of renal cysts. The glomerular filtration rate is determined by the Schwartz formula. Liver fibrosis was detected by ultrasound / MRI / CT / biopsy.RESULTS: ADPKD was detected prenatally and during the first year of life in 19.1 %, ARPKD in 70.6 %. Stable arterial hypertension was diagnosed with an ADPKD with “very early detection” in 7 % (among adolescents), with ARPKD in 100 % (under 3 years of age). The diameter of the renal cysts increases with ADPKD. Renal cysts are multiple, bilateral since birth with ARPKD, the diameter of the cysts does not increase. TKV increased at birth in 3.6 % of children with ADPKD, in 100 % with ARPKD. The trend line of average TKV with ADPKD is exponential, with ARPKD – linear. Extrarenal location of cysts was diagnosed with ADPKD in 3.6 % (in the testes), with ARPKD in 67 % (in the liver). Liver fibrosis with portal hypertension syndrome was detected in children with ARPKD in 33.3 %; performed ligation of the veins of the esophagus. Acute kidney damage was found in newborns with ADPKD in 3.6 %, with ARPKD in 33.3 %. Fatal outcome was ascertained in 3 (25 %) children with ARPKD. In the follow-up, the outcome in HBPS3 is in 2 children with ADPKD and 3 children with ARPP, in HBPS4 in 1 child with ARPKD.CONCLUSION: features of the course of ADPKD and ARPKD revealed in the prenatal, neonatal and thoracic periods are shown.

Polycystic kidney disease

2020 ◽  
Vol 13 (6) ◽  
pp. 326-335
Author(s):  
Soo Oh ◽  
Rabeet Khan ◽  
Ahmed Ziada
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Antenatal Screening ◽  
Polycystic Kidney ◽  
Holistic Management ◽  
Key Points ◽  
Common Causes ◽  
End Stage

Polycystic kidney disease (PKD) is a monogenic, hereditary disorder of the kidneys that leads to fluid-filled cysts within the renal tubes. It is one of the most common causes of end-stage renal failure. There are two types, the more common autosomal dominant (ADPKD) and the rarer autosomal recessive (ARPKD). ADPKD mostly presents in adulthood, whereas ARPKD is usually detected during antenatal screening or as a neonate. This article will focus on key points to understand and consider for the holistic management of PKD.

scholarly journals Autopsy Report with Clinical and Pathophysiologic Discussion of Autosomal Dominant Adult Polycystic Kidney Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Anup Hazra ◽  
Richard Siderits ◽  
Cheryl Rimmer ◽  
Noah Rolleri
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Average Weight ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease ◽  
Autopsy Report ◽  
Accelerated Hypertension ◽  
Hereditary Conditions

The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal, causing progressive renal failure, often necessitating dialysis or renal transplant for survival. We report a case of adult polycystic kidney disease in a 50-year-old female without a family history, who died of complications of the disease which included accelerated hypertension, and renal and cardiac failure.

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