Cystic Fibrosis (CF)

Behaviour

Stress and anxiety
Depression
Coping mechanisms
Social challenges
Family dynamics

Biomarkers

CRP, CFTR
IL-6 and IL-8
Nasal potential difference (NPD)
Diagnostic accuracy
Intestinal current measurement (ICM)

Pathology

Mucus production
CFTR gene mutations
Osteoporosis
Sweat
Pancreas

Idiopathic Pulmonary Fibrosis (IPF)

Behaviour

Progressive dyspnea
Dry cough
Fatigue
Weight loss
Chest tightness

Biomarkers

S100A12
Krebs von den Lungen-6 (KL-6)
Matrix metalloproteinases (MMPs): MMP-7, MMP8, MMP9, MMP12, and MMP13
Surfactant proteins
Galectin-3 (Gal-3)

Pathology

Fibroblast proliferation
Honeycomb cyst formation
Interstitial inflammation
Subpleural fibrosis
Dense scarring

Wilson’s Disease

Behaviour

Loss of appetite
Irritability
Weight loss
Depression
Phobias
Vomiting blood

Biomarkers

Ceruloplasmin
Copper levels
Tau protein
Plasma neurofilament light chain (NfL)
Daily urinary copper excretion

Pathology

Liver pathology: Steatosis, Glycogenated nuclei, Ballooning degeneration
Lesions in the basal ganglia
Kayser-Fleischer rings
Hemolytic anemia

Alexander Disease (AxD)

Behaviour

Irritability
Emotional instability
Memory loss
Intellectual impairment
Speech abnormalities

Biomarkers

Neurofilament light protein (NfL)
Phosphorylated forms of tau
Amyloid-β peptides
Glial fibrillary acidic protein (GFAP)

Pathology

Abnormal protein clumps
Astrocyte changes
Genetic cause
Rosenthal fibers
Neuronal loss

Mucopolysaccharidosis type I (MPS I)

Behaviour

Skeletal abnormalities
Vision problems
Hearing problems
Respiratory problems
Liver and spleen enlargement

Biomarkers

GAGs
Endogenous disaccharide biomarkers
Molecular sequence analysis of the IDUA gene
Keratan sulfate (KS)
Dermatan sulfate (DS) and Heparan sulfate (HS)

Pathology

Glycosaminoglycan (GAG) buildup
Organ and tissue damage
Cognitive impairment
Airway obstruction
Corneal clouding

Phenylketonuria (PKU)

Behaviour

Iirritability
Hyperactivity
Mood disorders
Social isolation
Seizures

Biomarkers

Phenylalanine hydroxylase (PAH)
Glutamyl-phenylalanine
N-lactoyl-phenylalanine
Phenylalanine-hexose conjugate
Phenyllactate

Pathology

Neurochemical abnormalities
Oxidative stress
Energy dysregulation
Brain pathology
Intellectual disability

Pulmonary arterial hypertension (PAH)

Behaviour

Decreased activity level
Fatigue and weakness
Anxiety and depression
Social withdrawal
Changes in eating habits

Biomarkers

NT-proBNP
Brain natriuretic peptide (BNP)
Endothelin-1
Troponins
ST-2

Pathology

Vascular remodeling
Obstructive lesions
Intima lesions
Loss of pre-capillary arteries

Fabry Disease

Behaviour

Depression
Anxiety
Pain, fatigue, and poor sleep
Social withdrawal
Hearing loss

Biomarkers

Plasma lyso-Gb3
CD80, podocyturia, and proteinuria
MCP-1, KIM-1, YKL-40, and CysC

Pathology

Arrhythmia, and proteinuria
Strokes
Skin lesion
Progressive renal failure
Tubular atrophy

Tuberous Sclerosis Complex (TSC)

Behaviour

Hyperactivity
Aggression
Anxiety and mood swings
Sleep disturbances
Social interaction challenges

Biomarkers

TSC1 or TSC2 genes
Skin lesions: Hypomelanotic macules (ash leaf spots), facial angiofibromas (adenoma sebaceum)
Brain MRI
Eye exam: Retinal hamartomas

Pathology

Tubers
Subependymal giant cell astrocytomas (SEGAs)
Facial angiofibromas
Retinal astrocytic hamartomas
Angiomyolipomas

Sickle cell disease (SCD)

Behaviour

Anxiety, Depression
Chronic pain
Social withdrawal
Somatic complaints
Irritability, Aggression

Biomarkers

sP-selectin
Interleukins (IL2, IL3, IL6, IL8 and IL10)
C-reactive protein (CRP)
Hemoglobin (Hb)
Oxidized glutathione (GSSH)

Pathology

Hemoglobin mutation
Sickle cell polymers
Sickle cell clumping
Stroke
Pain crises

Gaucher’s Disease
(Type 1, 2, 3)

Behaviour

Fatigue
Bone pain and fractures
Bleeding: Bruising problems
Eye movement disorders
Seizures

Biomarkers

GBA1 gene, Gcase
Glucosylsphingosine (lyso-GL1)
Chitotriosidase
Platelets
C-C motif chemokine ligand (CCL18/PARC)

Pathology

Anemia
Thrombocytopenia
Organ enlargement
Enzyme deficiency
Chronic fatigue

Alpha-1 Antitrypsin Deficiency (AATD)

Behaviour

Anxiety and stress
Depression
Irritability
Social withdrawal
Decreased activity level

Biomarkers

SERPINA1
Desmosine and isodesmosine
Serum gamma-glutamyl transferase (GGT)
Circulating alpha-1 antitrypsin polymers
Fibrinogen

Pathology

Eosinophilic cytoplasmic inclusions
PiZ allele
Panacinar emphysema
Neonatal cholestasis
Bronchiectasis

Hemophilia (A, B, C)

Behaviour

Anxiety
Depression
Aggressive behavior
Low self-esteem
Thought problems

Biomarkers

Interleukin-6 (IL-6)
ADAMTS5
Plasma soluble vascular cell adhesion protein 1 (VCAM-1)
C2M, CTX-II, and COMP
PINP, hsCRP

Pathology

Clotting factor deficiency
Joint damage
Hyperfibrinolysis
Brain bleeding
Fibrin clot

Fragile X Syndrome (FXS)

Behaviour

Anxiety and mood swings
Aggression
Stereotyped behaviors
Social difficulties
Communication challenges

Biomarkers

FMR1 gene
Matrix Metallopeptidase-9 (MMP-9)
Phosphoinositide 3-kinase (PI3K)
Amyloid-beta (APP)
Chemokines - CCL2, CCL3, CCL4, CCL11, CCL13, CCL17, CCL22, CCL26

Pathology

Protein synthesis
Methylation
FMRP deficiency
Synaptic dysfunction

Ehlers-Danlos Syndrome (EDS)

Behaviour

Anxiety, depression
Fatigue
Difficulty concentrating
Social withdrawal
Chronic pain

Biomarkers

COL5A1, COL3A1, CHST14, DSE, COL12A1, FKBP14, C1R, and C1S.
52 kDa fibronectin fragment
Fibronectin
Prolactin

Pathology

Collagen Abnormality
Genetic Heterogeneity
Tissue Manifestations

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