All participants will undergo DXA scan, PET/CT using 11-C acetate to measure renal oxygen consumption, hyperinsulinemic-euglycemic clamp to quantify insulin sensitivity, and renal clearance testing using iohexol and para-aminohippurate (PAH) to quantify glomerular filtration rate (GFR) and effective renal plasma flow (ERPF).

Comparative data will be provided from healthy adults from an ongoing study with similar study design and methods (CROCODILE Study: Control of Renal Oxygen Consumption, Mitochondrial Dysfunction, and Insulin Resistance).

During the study, we will collect blood and urine samples for assessment of kidney function and kidney injury markers.

Polycystic Kidney Disease, Adult

Polycystic Kidney, Autosomal Dominant

Diagnostic aid/agent used to measure effective renal plasma flow (ERPF)

Aminohippurate Sodium Inj 20%

Diagnostic aid/agent used to measure glomerular filtration rate (GFR)

Iohexol Inj 300 milligrams per milliliter (MG/ML)

Imaging used to visualize the kidneys and quantify renal metabolic activity

PET/CT Scan

Children's Hospital Colorado

PErfusioN, OxyGen ConsUmptIon and ENergetics in ADPKD (PENGUIN)

PENGUIN: PErfusioN, OxyGen ConsUmptIon and ENergetics in ADPKD

Blood draw for mitochondrial DNA copy number

Blood draw for untargeted metabolite assessment of the tricyclic acid (TCA) cycle

Blood draw for targeted assessment and quantification of glucose oxidation using an established metabolite panel

Blood draw for untargeted metabolite assessment of Free Fatty Acid (FFA) oxidation

Chitinase-3-like protein 1 (YKL-40) levels

Blood draw for Neutrophil gelatinase-associated lipocalin (NGAL) levels

Blood draw for Kidney Injury Molecule 1 (KIM-1) levels

Blood draw for Interleukin-18 (IL-18) levels

Blood draw for Tumor Necrosis Factor Receptor 1/2 (TNF-R 1/2) levels

Blood draw for monocyte chemoattractant protein-1 (MCP-1) levels

Petter Bjornstad

Assistant Professor of Medicine and Pediatrics

University of Colorado Denver School of Medicine Barbara Davis Center

Individuals currently living, over the age of 18 years and known carriers of a pathogenic variant in the VHL gene.

DNA extracted from periferal blood and CNS hemangioblastomas removed as part of the participants treatment for their condition.

Von Hippel-Lindau Disease

DNA from CNS hemangioblastomas and normal tissue (blood) will be analysed using whole exome sequencing.

Whole exome sequencing

Department of Cellular and Molecular Medicine

Odense University hospital, department of clinical genetics

Drivers of Hypoxia-induced Angiogenesis in Tumor Development

Marie Louise Binderup

Postdoc researcher

University of Copenhagen

Odense University Hospital

Inclusion criteria: All consenting Infants and children who have had A Congenital Pulmonary Airway Malformation (CPAM) surgically removed by thoracoscopy over a 10 year period (2008-2017) in a regional centre.
Exclusion criteria: Non consenting participants

Pulmonary Arteriovenous Malformation

Congenital Disorders

Thoracoscopic CPAM resection

Kings College Hospital NHS Trust

A Review of Surgical Management of Congenital Pulmonary Airway Malformations (CPAM): A Decade of Experience

This will be a descriptive measure of perioperative complications, namely, number including converted to 'open' surgery from thoracoscopy and its reasons, postoperative respiratory complications needing active therapy such as return to theatre, reintubation, insertion of chest drains to manage pneumothorax, haemothorax or chylothorax, duration of intensive care needed and duration of hospital stay needed.

This will include 28 day mortality associated with the surgical episode

This will be a qualitative assessment of the child's postoperative well-being as reported by the parents/guardian during hospital follow up clinics or an assessment by telephone using a standard questionnaire to assess well-being, growth and development of the child as reported by the parents or guardian. This will in addition include the frequency of any respiratory symptoms, therapeutic needs and hospitalisations encountered by the child following the removal of CPAM.

This will be parental opinion of child's well-being when compared to that of preoperative cognitive function, development, and general health. In summary this is a qualitative assessment of child's health as reported by the parents.

King's College Hospital NHS Trust

King's College London

Pineal Gland Disorder

Corpus Callosum Atrophy

Cerebral Palsy

MR of the brain without gadolinium, incl. T2-weighted image

MR of the brain

Corpus Callosum Size in Patients With Pineal Cyst

size of corpus callosum in mm2 measured on the midsagittal T2-weighted MR scan

Martin Majovsky, MD

Senior physician

Military University Hospital, Prague

Patients with diagnosis of LCH based on histopathological or clinical and radiological findings.

Current or ex smokers matched with cases for age, gender and smoking history.

Langerhans Cell Histiocytosis

InCor Heart Institute

Evaluation of Exercise Capacity and Exercise Limitation in Patients With Pulmonary Langerhans Cell Histiocytosis

Evaluation of Exercise Capacity and Mechanisms of Exercise Limitation in Patients With Pulmonary Langerhans Cell Histiocytosis

Maximal O2 uptake capacity (VO2 max) during a cardiopulmonary exercise test (mL/kg/min)

Distance during a six-minute walk test in meters

SF-36 questionnaire to evaluate quality of life

Diffusing capacity for carbon monoxide (mL/min/mmHg)

Serial measurement of inspiratory capacity during incremental cardiopulmonary exercise test (L)

FEV1 (Pulmonary lung function - spirometry) - L

Velocity measurement of tricuspid regurgitant jet evaluated by transthoracic echocardiography (m/s)

Residual volume/total lung capacity ratio evaluated in pulmonary lung function - plethysmography

Residual volume evaluated in pulmonary lung function - plethysmography (L)

Desaturation during a six-minute walk test (%)

Ejection fraction evaluated by transthoracic echocardiography (%)

Diameter of the cardiac chambers evaluated by transthoracic echocardiography (cm)

cysts/hypoxia

PErfusioN, OxyGen ConsUmptIon and ENergetics in ADPKD (PENGUIN)

Drivers of Hypoxia-induced Angiogenesis in Tumor Development

A Review of Surgical Management of Congenital Pulmonary Airway Malformations (CPAM): A Decade of Experience

Corpus Callosum Size in Patients With Pineal Cyst

Evaluation of Exercise Capacity and Exercise Limitation in Patients With Pulmonary Langerhans Cell Histiocytosis

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