Genetic Diseases of the Kidney
A 48-year-old woman comes to the clinic to establish medical care and for routine physical examination. Her past medical history is notable for elevated blood pressure. She is currently not taking any medications. Her family history is unremarkable; her mother lived into her 80s with no apparent medical problems. Her father passed away at a young age in a motor vehicle accident. She has three brothers and one sister who are apparently healthy. Review of systems is notable for increasing abdominal fullness over the past few years, early satiety and leg cramps. Physical exam reveals a blood pressure of 152/92, heart rate 81, respiratory rate 14, temperature of 36.4 °C. Abdominal exam is remarkable for bilateral palpable kidneys. Laboratory studies reveal a serum creatinine of 2.5 mg/dL and blood urea nitrogen 37 mg/dL. Urinalysis is dipstick reveals 1+ blood and trace protein, and urine microscopy is noted to be bland. An abdominal CT scan without contrast reveals bilaterally enlarged kidneys with numerous cysts and several small calculi (Fig. 49.1). The liver is also noted to have several cysts.
KeywordsFabry Disease Glomerular Basement Membrane Autosomal Dominant Polycystic Kidney Disease Primary Cilium Renal Cyst
- 6.Feehally J, Floege J, Johnson RJ. Comprehensive clinical nephrology. 3rd ed. Philadelphia, PA: Mosby/Elsevier; 2007.Google Scholar