Autosomal dominant polycystic kidney disease (ADPKD) is associated with berry aneurysms which can cause subarachnoid hemorrhage (SAH), and is inherited in an autosomal dominant fashion as demonstrated in Figure B.
ADPKD (formerly adult polycystic kidney disease) is a genetic disease caused by an autosomal dominant mutation in the PKD1 or PKD2 gene. It produces multiple, large, bilateral cysts that ultimately destroy the kidney parenchyma (Illustration A). It often presents with flank pain, hematuria, hypertension, or kidney failure. It is associated with berry aneurysms, mitral valve prolapse, and benign hepatic cysts. Berry aneurysms are a common cause of subarachnoid hemorrhage which presents commonly as a very severe headache or "worse headache of my life".
Srivastave and Patel review the pathophysiology, presentation, and management of ADPKD. ADPKD is the most common inherited cause of kidney disease. Enlarging cysts within the kidneys are the clinical hallmark of the disease. Renal manifestations include varying degrees of kidney injury, urinary tract infections, kidney stones, and hematuria. Extrarenal manifestations can include pain, hypertension, left ventricular hypertrophy, hepatic cysts, intracranial aneurysm, diverticulosis, and abdominal, and inguinal hernias.
Niemczyk et al. review the presence and severity of hypertension and intracranial aneurysms (ICAN) in 68 patients with ADPKD. ICANs were diagnosed in 10 out of the 68 patients. The nighttime maximum diastolic blood pressure, maximum increase in DBP from measurement to measurement at night, and the standard deviation of the daytime mean arterial pressure were significantly higher in ICAN(+) compared to ICAN(-) patients.
Figures A, and C-E are described in the incorrect answers below.
Figure B is a pedigree demonstrating an autosomal dominant mode of inheritance.
Figure F is a CT scan demonstrating a subarachnoid hemorrhage. Note the increased intensity denoted by the arrow which demonstrates blood.
Illustration A is a dissection specimen of kidneys affected by ADPKD.
Answer 1: Figure A is a pedigree demonstrating an X-linked dominant mode of inheritance.
Answer 3: Figure C is a pedigree demonstrating an X-linked recessive mode of inheritance.
Answer 4: Figure D is a pedigree demonstrating an autosomal recessive mode of inheritance.
Answer 5: Figure E is a pedigree demonstrating a maternal mode of inheritance as is observed in mitochondrial diseases.
Srivastava A, Patel N. Autosomal dominant polycystic kidney disease. Am Fam Physician. 2014 Sep 1;90(5):303-7. PubMed PMID: .
PMID:25251090 (Link to Abstract)
Niemczyk M, Pilecki T, Gradzik M, Bujko M, Niemczyk S, Paczek L. Blood pressure and intracranial aneurysms in autosomal dominant polycystic kidney disease. Kidney Blood Press Res. 2014;39(6):630-5. doi: 10.1159/000368475. Epub 2014 Dec 15. PubMed PMID: .
PMID:25571876 (Link to Abstract)