PKD1 Compared With PKD2 Genotype and Cardiac Hospitalizations in the Halt Progression of Polycystic Kidney Disease Studies

Steele, Cortney N.; You, Zhiying; Gitomer, Berenice; Brosnahan, Godela; Abebe, Kaleab Z.; Braun, William E.; Chapman, Arlene B.; Harris, Peter C.; Perrone, Ronald D.; Steinman, Theodore I.; Torres, Vicente E.; Yu, Alan; Chonchol, Michel; Nowak, Kristen L.

doi:10.1016/j.ekir.2021.09.013

Cited by 4 publications

(3 citation statements)

References 11 publications

(8 reference statements)

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“…Additionally, the timing of onset and diagnosis of ADPKD is somewhat complicated by the significant delay between the onset of renal cyst formation and the manifestation of symptoms of kidney disease. In ADPKD, development of cysts in the kidneys can start very early, including in utero, but even a serious increase in kidney volume in childhood may not cause a decline in kidney function (11,12). While hypertension occurs prior to disease in a majority of ADPKD patients and is associated with a significantly worse prognosis, it can sometimes be found in PKD1 and PKD2 carriers in childhood without signs of kidney damage (13).…”

Section: Introductionmentioning

confidence: 99%

Withdrawn: Hypertension increases PPV for polycystic kidney disease inPKD1andPKD2variant carriers

Telis,

McEwen,

Bolze

et al. 2023

Preprint

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Section: Introductionmentioning

confidence: 99%

Withdrawn: Hypertension increases PPV for polycystic kidney disease inPKD1andPKD2variant carriers

Telis,

McEwen,

Bolze

et al. 2023

Preprint

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“…PKD1 and PKD2 mutations exhibit similar phenotypes, but PKD1 typically leads to earlier renal replacement therapy dependency, affecting approximately 50% of patients by the age of 60 years. PKD2 mutations tend to manifest in older individuals, presenting with milder symptoms, fewer kidney cysts, delayed hypertension onset, and less frequent end-stage renal disease than PKD1 mutations 18 , 19 .…”

Section: Discussionmentioning

confidence: 99%

Glioneuronal tumor in an autosomal-dominant polycystic kidney disease patient: a case report and literature review

Qupp,

Zeidan,

Nimer

2024

Annals of Medicine &Amp; Surgery

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Introduction: The association between primary brain tumors, such as glioneuronal tumors, with autosomal-dominant polycystic kidney disease (ADPKD) remains poorly understood, with only two cases reported excluding this one. This case of an ADPKD patient diagnosed with a rosette-forming glioneuronal tumor highlights an exceptionally rare potential association warranting further investigation. Case Presentation: A 28-year-old male with ADPKD presented with progressive ataxia, dizziness, and headache. MRI revealed a cerebellar mass and obstructive hydrocephalus. Surgical resection and histopathological examination confirmed the diagnosis of a rosette-forming glioneuronal tumor (RGNT). Postoperatively, the patient showed significant symptom improvement. Discussion: The interplay between genetics and glioneuronal development is complex and underexplored. While most glioneuronal arise sporadically, rare genetic syndromes may predispose individuals to these tumors. Additionally, although more than 70 cases of ADPKD with concurrent tumors were reported, the literature on this specific association remains limited. Conclusion: This case underscores the need for heightened awareness of potential associations between ADPKD and tumors such as glioneuronal tumors. With limited literature on this subject, further research is imperative to understand the underlying mechanisms and clinical implications. Enhancing our knowledge in this area can improve patient outcomes and management strategies.

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“…In 864 patients from the HALT-PKD study, the presence of a Pkd1 or Pkd2 gene mutation correlated with LVH and cardiac hospitalizations [28]. Patients with the Pkd1 genotype versus the Pkd2 genotype had higher LVM.…”

Section: Pkd2 Gene Knockout and Lvhmentioning

confidence: 99%

The Pathophysiology of Left Ventricular Hypertrophy, beyond Hypertension, in Autosomal Dominant Polycystic Kidney Disease

Oto

Edelstein²

2022

Nephron

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Heart disease is one of the leading causes of death in autosomal dominant polycystic kidney disease (ADPKD) patients. Left ventricular hypertrophy (LVH) is an early and severe complication in ADPKD patients. Two decades ago, the prevalence of LVH on echocardiography in hypertensive ADPKD patients was shown to be as high as 46%. Recent studies using cardiac magnetic resonance imaging have shown that the prevalence of LVH in ADPKD patients may be lower. The true prevalence of LVH in ADPKD patients is controversial. There is evidence that factors other than hypertension contribute to LVH in ADPKD patients. Studies have shown that young normotensive ADPKD adults and children have a higher left ventricular mass index compared to controls and that the prevalence of LVH is high in patients with ADPKD whose blood pressure is well controlled. Polycystin-1 (PC-1) and polycystin-2 (PC-2) control intracellular signaling pathways that can influence cardiac function. Perturbations of PC-1 or PC-2 in the heart can lead to profound changes in cardiac structure and function independently of kidney function or blood pressure. PC-1 can influence mammalian target of rapamycin and mitophagy and PC-2 can influence autophagy, processes that play a role in LVH. Polymorphisms in the angiotensin-converting enzyme gene may play a role in LVH in ADPKD. This review will detail the pathophysiology of LVH, beyond hypertension, in ADPKD.

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PKD1 Compared With PKD2 Genotype and Cardiac Hospitalizations in the Halt Progression of Polycystic Kidney Disease Studies

Cited by 4 publications

References 11 publications

Withdrawn: Hypertension increases PPV for polycystic kidney disease inPKD1andPKD2variant carriers

Withdrawn: Hypertension increases PPV for polycystic kidney disease inPKD1andPKD2variant carriers

Glioneuronal tumor in an autosomal-dominant polycystic kidney disease patient: a case report and literature review

The Pathophysiology of Left Ventricular Hypertrophy, beyond Hypertension, in Autosomal Dominant Polycystic Kidney Disease

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