2025 – PAGE 386 – NEPHROLOGY

(DOUBLE TAKE) FANCONI ANEMIA

Fanconi anemia is an APLASTIC anemia that is MACROCYTIC. Patients are usually older than 4 years of age. Look for multiple anomalies including short stature, café au lait spots, renal abnormalities, microcephaly, hypogonadism, and upper limb/hand anomalies. Treat Fanconi anemia with a bone marrow transplant.

MNEMONIC: Imagine you are a private investigator. You enter a mass murderer’s home and see A PLASTIC ceiling FAN. It has four ORANGE, PLASTIC (aplastic) blades that look like CONes. We’ll call them FAN CONES. Each of these ceiling FAN CONES has body parts hidden inside them. You look up right as HUGE BLOOD CELLS start to drip out of them. You find a stepladder, look inside the FAN CONES, and find a hidden GONAD, a SMALL HEAD, an ARM, and a HAND holding a mug of coffee. Remember, this is a CEILING fan. The Blackfan mnemonic is a standing plastic black fan.

NAME ALERT: The name alert is for FANCONI SYNDROME.

(DOUBLE TAKE) ALPORT SYNDROME (AKA ALPORT’S SYNDROME)

Alport syndrome (AKA Alport’s syndrome) is primarily an X-linked dominant disorder. The findings are more severe in males and include RENAL disease (which starts with hematuria and progresses to end-stage renal disease), bilateral sensorineural hearing loss; and eye/vision problems. Females may be noted to have hematuria that can eventually progress to ESRD. To recap, boys have hearing, vision, AND kidney problems. Girls only have renal issues.

MNEMONIC: At Al’s PORT, X marks the spot where the boats have to dock. Consider adding a story about poor AL and the KIDNEY-SHAPED boat he crashed into his PORT because he had POOR VISION and POOR HEARING. It was so bad that he couldn’t see or hear everyone on the dock yelling at him to slow down!