KHA‐CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease

Rangan, Gopala K.; Alexander, Stephen I.; Campbell, Katrina L.; Dexter, Mark; Lee, Vincent; Lopez‐Vargas, Pamela; Mai, Jun; Mallett, Andrew; Patel, Chirag; Patel, Manish I.; Tchan, Michel; Tong, Allison; Tunnicliffe, David J.; Vladica, Philip; Savige, Judy

doi:10.1111/nep.12658

Cited by 33 publications

(56 citation statements)

References 45 publications

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“…Cyst formation occurs with variable severity and timing, likely related to the degree of protein truncation caused by a PKD1 or PKD2 pathogenic variant . Generally, PKD2 pathogenic variants are phenotypically milder than PKD1 , with lower incidence of ESRD and arterial hypertension occurring later in life . Even in the setting of a known or likely pathogenic variant, clinical presentation, timing, and severity of disease is strikingly different from patient to patient .…”

Section: Cystic Kidney Diseasementioning

confidence: 99%

“…Long‐term management strategies should including screening and treatment of hypertension, assessment of proteinuria, and early diagnosis and treatment of genito‐urinary infections. Improved management of disease is directly correlated with lower likelihood of progression to ESRD …”

Section: Cystic Kidney Diseasementioning

confidence: 99%

“…17 Generally, PKD2 pathogenic variants are phenotypically milder than PKD1, with lower incidence of ESRD and arterial hypertension occurring later in life. 21 Even in the setting of a known or likely pathogenic variant, clinical presentation, timing, and severity of disease is strikingly different from patient to patient. 12,22 The association between genotype and phenotype is not wellunderstood, particularly in the prenatal period.…”

Section: Genetics Of Adpkdmentioning

confidence: 99%

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Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

2019

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Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20% of all congenital malformations occurring in one in 500 live births. Worldwide, CAKUT are responsible for 40% to 50% of pediatric and 7% of adult end‐stage renal disease. Pathogenic variants in genes causing CAKUT include monogenic diseases such as polycystic kidney disease and ciliopathies, as well as syndromes that include isolated kidney disease in conjunction with other abnormalities. Prenatal diagnosis most often occurs using ultrasonography; however, further genetic diagnosis may be made using a variety of testing strategies. Family history and pathologic examination can also provide information to improve the ability to make a prenatal diagnosis of CAKUT. Here, we provide a comprehensive overview of genetic considerations in the prenatal diagnosis of CAKUT disorders. Specifically, we discuss monogenic causes of CAKUT, associated ultrasound characteristics, and considerations for genetic diagnosis, antenatal care, and postnatal care.

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Section: Cystic Kidney Diseasementioning

confidence: 99%

Section: Cystic Kidney Diseasementioning

confidence: 99%

Section: Genetics Of Adpkdmentioning

confidence: 99%

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Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

2019

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“…Lifestyle changes include dietary salt restriction to less than 6 g/ day, weight reduction, regular exercise, increased fluid intake (up to 3 L/day or to satisfy thirst), smoking cessation, and avoidance of caffeine. [47][48][49] ACE inhibitors are first-line drugs in hypertensive ADPKD patients.…”

Section: Treatment Strategiesmentioning

confidence: 99%

Autosomal dominant polycystic kidney disease and the heart and brain

Krishnappa¹,

Vinod²,

Deverakonda³

et al. 2017

CCJM

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“…9,10 Therefore, molecular diagnostic testing is recommended by many guidelines and statements. 7,11 However, genetic testing is not performed routinely because of the limited availability of sequencing platforms and associated high costs. 12 In addition, genetic analysis for PKD1 mutations is technically challenging, 12,13 because exons 1-33 of PKD1 is duplicated within 6 pseudogenes (PKD1P1 to PKD1P6) on chromosome 16p, which share a 97.7% sequence identity with the genuine gene.…”

Section: Introductionmentioning

confidence: 99%

Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease

et al. 2018

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Distinguishing autosomal-dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture-based next-generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD. Through our analysis, 32 patients had PKD1 or PKD2 mutations. Additionally, 3 patients with disease-causing mutations in NPHP4, PKHD1, and OFD1 were diagnosed with an inherited renal cystic disease other than ADPKD. In patients with PKD1 or PKD2 mutations, the prevalence of polycystic liver disease, defined as more than 20 liver cysts, was significantly higher (71.9% vs 33.3%, P = .006), total kidney volume was significantly increased (median, 1580.7 mL vs 791.0 mL, P = .027) and mean arterial pressure was significantly higher (median, 98 mm Hg vs 91 mm Hg, P = .012). The genetic screening approach and clinical features described here are potentially beneficial for optimal management of adult sporadic polycystic kidney disease patients.

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KHA‐CARI guideline recommendations for the diagnosis and management of autosomal dominant polycystic kidney disease

Cited by 33 publications

References 45 publications

Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

Autosomal dominant polycystic kidney disease and the heart and brain

Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease

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