International Journal of Molecular Sciences

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Autosomal Dominant Polycystic Kidney Disease (ADPKD): Molecular Mechanism, Management and Therapy

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Dr. Maria Teresa Sciarrone Alibrandi

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O.U. Nephrology and Dialysis, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy
Interests: ADPKD; genetically determined cystic diseases; hereditary kidney disorders; arterial hypertension; electrolyte and acid-base imbalances

Special Issue Information

Dear Colleagues,

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited kidney disorder and a leading cause of end-stage renal disease (ESRD) worldwide. Despite the significant progress made in understanding the genetic and molecular mechanisms behind ADPKD, many aspects of its pathogenesis, progression, and clinical management remain incompletely understood. This has limited the development of targeted therapies and effective disease-modifying treatments.

ADPKD is characterized by the progressive formation and enlargement of kidney cysts, which lead to renal function decline and a wide range of extrarenal manifestations. Early diagnosis, personalized risk stratification, and novel treatment approaches are essential to improving the long-term outcomes for patients.

A key component of comprehensive ADPKD management is the assessment and prevention of cardiovascular complications. Left ventricular hypertrophy, hypertension, and intracranial aneurysms are just some of the potential manifestations. Therefore, early cardiovascular screening and risk stratification play a pivotal role in improving patient prognosis and guiding timely therapeutic interventions.

This Special Issue aims to collect high-quality original research articles and comprehensive reviews that provide new insights into the pathophysiology, diagnosis, management, and treatment of ADPKD. We welcome submissions of novel findings that are not under consideration elsewhere and contribute meaningfully to the advancement of the field.

Potential topics include, but are not limited to, the following:

The molecular and genetic mechanisms driving ADPKD progression;
Novel diagnostic and prognostic biomarkers;
Advances in imaging techniques for disease monitoring;
Emerging therapeutic strategies and clinical trials;
Role of inflammation, metabolism, and fibrosis in ADPKD;
Experimental models of ADPKD;
The impact of lifestyle and dietary interventions;
Cardiovascular complications and the importance of screening;
Extra-renal manifestations and systemic involvement;
Patient-centered care and long-term follow-up strategies;
Translational research and precision medicine approaches in ADPKD.

We look forward to your contributions to this Special Issue.

Dr. Maria Teresa Sciarrone Alibrandi
Guest Editor

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16 pages, 973 KB

Open AccessReview

The Hidden Iceberg of ADPKD: Early Organomegaly-Driven Malnutrition and Sarcopenia Beyond Preserved eGFR

by Matteo Brambilla Pisoni, Martina Catania, Rodolfo Fernando Rivera, Liliana Italia De Rosa, Kristiana Kola, Michele Paolisi, Pierpaolo Bianca, Sara Farinone, Micaela Petrone, Lorena Citterio, Giuseppe Vezzoli and Maria Teresa Sciarrone Alibrandi

Int. J. Mol. Sci. 2026, 27(4), 1667; https://doi.org/10.3390/ijms27041667 - 9 Feb 2026

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Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent monogenic kidney disease (≈4 cases per 10.000 inhabitants) and a major cause of end-stage kidney disease (ESKD). Beyond progressive cystic enlargement of the kidneys and frequent extrarenal involvement, adults with ADPKD often exhibit a distinctive “body phenotype” with central adiposity and marked abdominal distension due to renal and hepatic organomegaly. In this setting, conventional anthropometric indices such as body mass index (BMI) and crude body weight are of limited value, as they cannot distinguish nutritional tissues (muscle, subcutaneous fat) from non-nutritional mass (cyst fluid, fibrotic tissue, or expanded extracellular water). This review summarizes the current evidence on malnutrition and sarcopenia in adult ADPKD, with a focus on the impact of organomegaly and adiposity. Cross-sectional work using the modified Subjective Global Assessment (SGA) has shown that approximately one-third of ambulatory ADPKD patients are at risk of becoming, or have become, malnourished, and that height-adjusted total kidney and liver volume (htTKLV) is the strongest clinical predictor of malnutrition, whereas eGFR plays a secondary role. Bioelectrical impedance analysis (BIA) further demonstrates a disease-specific body composition phenotype, with increased total and extracellular body water, particularly in the trunk, a reduced phase angle and reduced lean mass, consistent with early malnutrition and sarcopenia. These alterations are present even at relatively preserved kidney function and, in matched analyses, distinguish ADPKD from non-ADPKD CKD. Prospective data from a multicenter cohort indicate that the baseline SGA-defined nutritional status independently predicts short-term eGFR decline in typical ADPKD, supporting malnutrition as a potential modifier of renal trajectory rather than a mere correlate of advanced disease. In parallel, narrative syntheses on adiposity highlight that a higher BMI, waist circumference and visceral fat are associated with larger total kidney volume, faster eGFR loss and greater symptom burden, and raise concern for a sarcopenic obesity phenotype in which excess fat and cystic mass coexist with low muscle mass. Collectively, these findings support a pathophysiological model in which organomegaly-driven mechanical effects (early satiety, gastrointestinal discomfort), systemic inflammation, insulin resistance and cyst-related metabolic reprogramming converge to produce “hidden malnutrition” in ADPKD, masked by apparent overweight. From a clinical perspective, malnutrition and sarcopenia should be regarded as central, disease-modifying components of the ADPKD phenotype. Routine nutritional screening (e.g., SGA/PG-SGA) and BIA-based body composition assessment, particularly in patients with severe organomegaly or symptomatic polycystic liver disease, should be integrated into ADPKD care pathways, and individualized, muscle-preserving nutritional strategies should be tested in future prospective studies. Full article

(This article belongs to the Special Issue Autosomal Dominant Polycystic Kidney Disease (ADPKD): Molecular Mechanism, Management and Therapy)

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