Differential Diagnosis for a 40-year-old Hypertensive Man with Haematuria and Family History of Kidney Disease

• Single most likely diagnosis
  • Autosomal dominant polycystic kidney disease (ADPKD): This condition is strongly suggested by the patient's symptoms (hypertension, haematuria, and flank pain) and the family history of kidney disease, including a younger sister who died from kidney disease and a hypertensive mother. ADPKD is a genetic disorder characterized by the growth of numerous cysts in the kidneys and often leads to hypertension and kidney failure.
• Other Likely diagnoses
  • Von-Hippel-Lindau syndrome: Although less likely than ADPKD given the specific symptoms and family history, Von-Hippel-Lindau syndrome is a hereditary condition that can cause cysts and tumors in the kidneys, among other organs. It could be considered if there were additional symptoms such as retinal angiomas or cerebellar hemangioblastomas.
  • Tuberous sclerosis: This genetic disorder can cause kidney cysts and tumors (angiomyolipomas), but it typically presents with a broader range of symptoms including skin lesions, seizures, and intellectual disability. The family history provided does not strongly support this diagnosis.
• Do Not Miss diagnoses
  • Alport syndrome: A genetic disorder characterized by kidney disease, hearing loss, and eye abnormalities. It's crucial to consider because it can lead to kidney failure and has a genetic basis, but the primary symptoms provided do not directly point to Alport syndrome.
  • Familial nephropathy due to other causes: Other genetic causes of kidney disease could present similarly and have a significant family history. Missing these diagnoses could lead to delayed treatment and poor outcomes.
• Rare diagnoses
  • Hereditary nephritis: Conditions like thin basement membrane nephropathy could be considered, although they are less likely given the combination of hypertension, haematuria, and the specific family history provided.
  • Other cystic kidney diseases: Such as medullary cystic kidney disease, which is less common and typically presents later in life with kidney failure rather than the broad range of symptoms seen in ADPKD.