Introduction Niemann Pick Disease Type C (NPC) is a progressive, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2, leading to abnormal lipid accumulation and multi-system dysfunction. Pediatric onset is common, presenting with hepatosplenomegaly in infancy or with ataxia, dystonia, and psychiatric symptoms in adole

Introduction Niemann Pick Disease Type C (NPC) is an ultra-rare, autosomal recessive lysosomal storage disorder caused by mutations in the NPC1 or NPC2 genes, leading to disrupted lipid metabolism and progressive cellular dysfunction (1). With an incidence of approximately 1 in 100,000 live births, the disease presents with a wide clinical spectrum

Introduction / Case Summary: A 62-year-old man with type 2 diabetes mellitus (T2DM), hypertension, and stage 3 chronic kidney disease (CKD) showed progressive decline in estimated glomerular filtration rate (eGFR) and persistent albuminuria despite renin–angiotensin system [RAS] blockade. Baseline values: eGFR 42 mL/min/1.73 m², urinary albumin-to-

Introduction: Acute hepatic porphyria (AHP) comprises four rare inherited disorders caused by mutations in genes encoding enzymes of the heme biosynthesis pathway: acute intermittent porphyria (AIP), hereditary coproporphyria (CPOX), variegate porphyria (PPOX), and δ-aminolevulinic acid dehydratase–deficient porphyria (ALAD) (1). Acute intermittent

Introduction: Acute hepatic porphyrias (AHPs) are a group of rare, inherited disorders of heme biosynthesis characterized by potentially life-threatening neurovisceral attacks, chronic symptoms such as fatigue and pain, and long-term complications including renal impairment and hepatocellular carcinoma (1). The disorder arises from partial deficien

Introduction Primary Biliary Cholangitis (PBC), a chronic autoimmune cholestatic liver disease, is characterized by progressive destruction of small intrahepatic bile ducts. A common and burdensome symptom in PBC is cholestatic pruritus (itch), affecting up to 74% of patients during the disease course and significantly impairing health-related qual

Introduction: Primary biliary cholangitis (PBC) is a rare, chronic autoimmune cholestatic liver disease marked by progressive destruction of small intrahepatic bile ducts and fibrosis, leading to cholestasis (1). Accumulation of serum bile acids is considered a key factor in the pathogenesis of cholestatic pruritus in PBC (1). The ileal bile acid t

Primary biliary cholangitis (PBC) is a rare chronic autoimmune cholestatic liver disease characterized by progressive destruction of small intrahepatic bile ducts and biliary fibrosis, leading to cholestasis (1). Accumulation of serum bile acids is considered a key contributor to cholestatic pruritus in PBC, making the ileal bile acid transporter (

Introduction: Chronic hepatitis B virus (HBV) infection remains a major global health challenge, with millions affected and significant morbidity and mortality primarily due to cirrhosis and hepatocellular carcinoma (1). The primary therapeutic goal is achieving a functional cure, defined as sustained loss of hepatitis B surface antigen (HBsAg) wit