Characteristics of Major Inheritable and Nonheritable Cystic Kidney Diseases Flashcards
A 40-year-old patient with ADPKD comes in complaining of severe headaches. What other medical complication are they at highest risk for?
A. Cerebellar hemangioblastomas
B. Intracranial (berry) aneurysms
C. Epilepsy
D. Retinal angiomas
Correct Answer: B
Explanation:
ADPKD often presents with intracranial (berry) aneurysms as an extrarenal manifestation.
Memory Tool:
ADPKD - “Always Doing Painful Knots in the Brain” for intracranial aneurysms.
Reference Citation:
ABLE 39.1, Paragraph 2
Rationale:
Awareness of these associated risks helps in the holistic management of the disease.
Clinical Vignette:
You are consulting on a newborn with enlarged, homogeneous, echogenic kidneys on ultrasound. What other condition should you most suspect?
A. Diverticulitis
B. Congenital hepatic fibrosis
C. Epilepsy
D. Bardet-Biedl syndrome
Correct Answer: B
Explanation:
ARPKD is characterized by large, homogeneous, echogenic kidneys in newborns and is associated with congenital hepatic fibrosis and biliary dysgenesis.
Memory Tool:
ARPKD - “A Really Big Kid’s Disease” to remember large kidneys, and “Born Congested” for congenital hepatic fibrosis.
Reference Citation:
ABLE 39.1, Paragraph 1
Rationale:
Understanding associated systemic manifestations is essential for managing cystic kidney diseases, as they often have extra-renal complications.
Clinical Vignette:
A pediatric patient shows renal failure and is found to have cysts of the corticomedullary junction on imaging. What other extrarenal manifestation might you expect?
A. Retinitis pigmentosa
B. Adenoma sebaceum
C. Mental retardation
D. Pheochromocytomas
Correct Answer: A
Explanation:
Juvenile nephronophthisis often has associated retinitis pigmentosa (also known as Senior-Loken syndrome).
Memory Tool:
“Junior Needs CorticoMed Junction Cysts & Really Perfect Sight” - for Juvenile nephronophthisis, CorticoMedullary Junction cysts, and Retinitis Pigmentosa.
Reference Citation:
ABLE 39.1, Paragraph 3
Rationale:
In children, early diagnosis of extra-renal symptoms can have a significant impact on the treatment approach.
Clinical Vignette:
A pediatric patient has angiomyolipomas in the kidney and has a history of seizures. What dermatological feature should be looked for during physical examination?
A. Retinal angiomas
B. Adenoma sebaceum
C. Bardet-Biedl syndrome
D. Hepatic fibrosis
Correct Answer: B
Explanation:
Tuberous Sclerosis (autosomal dominant) often presents with adenoma sebaceum in addition to kidney cysts and angiomyolipomas.
Memory Tool:
TS - “Tubular Skin bumps” for adenoma sebaceum.
Reference Citation:
ABLE 39.1, Paragraph 5
Rationale:
Recognizing dermatological features can assist in the quick diagnosis and management of this condition.
Clinical Vignette:
A 25-year-old male presents with clear cell Renal Cell Carcinoma (RCC). What other associated symptom is most likely?
A. Intracranial (berry) aneurysms
B. Cerebellar hemangioblastomas
C. Congenital hepatic fibrosis
D. Epilepsy
Correct Answer: B
Explanation:
Tuberous Sclerosis (autosomal dominant) often presents with adenoma sebaceum in addition to kidney cysts and angiomyolipomas.
Memory Tool:
TS - “Tubular Skin bumps” for adenoma sebaceum.
Reference Citation:
ABLE 39.1, Paragraph 5
Rationale:
Recognizing dermatological features can assist in the quick diagnosis and management of this condition.
Clinical Vignette:
A newborn is diagnosed with multicystic dysplastic kidney. What is the most unique characteristic of this condition?
A. Presents with nephron development
B. Is an inheritable disease
C. Minimal, if any, nephron development
D. Commonly associated with hepatic fibrosis
Correct Answer: C
Explanation:
Multicystic Dysplastic Kidney is characterized by minimal, if any, nephron development. It is the most frequent renal cystic disease in newborns.
Memory Tool:
MDK - “Many Dots, but no Kidney function” to remember the lack of nephron development.
Reference Citation:
ABLE 39.1, Paragraph 7
Rationale:
Understanding the unique characteristics of each cystic kidney disease helps differentiate them in clinical scenarios.
Clinical Vignette:
A 35-year-old female presents with a benign cystic neoplasm in the kidney. What is a characteristic feature of this condition?
A. Common in males below the age of 4
B. Presents more often in females older than 30
C. Associated with retinitis pigmentosa
D. Develops after onset of renal failure
Correct Answer: B
Explanation:
Benign multilocular cysts present more often in females when they are older than 30 years.
Memory Tool:
BMC - “Beneath My Care, 30+ Females” to remember age and gender specificity.
Reference Citation:
ABLE 39.1, Paragraph 8
Rationale:
Knowing age and gender predilections can assist in narrowing down diagnoses.
Clinical Vignette:
A 60-year-old male comes in for a routine checkup, and imaging reveals multiple simple cysts in the kidneys. What can you tell him about this condition?
A. Commonly associated with ESRD
B. Very common with increasing age
C. Likely to develop into RCC
D. Associated with hepatic fibrosis
orrect Answer: B
Explanation:
Simple cysts are very common in normal kidneys with increasing age.
Memory Tool:
SC - “Sixty’s Commonplace” to remember its prevalence in older age groups.
Reference Citation:
ABLE 39.1, Paragraph 9
Rationale:
Recognizing common conditions and reassuring patients about their benign nature is important in practice.
Clinical Vignette:
A patient is found to have ectatic collecting ducts in the kidney on imaging. What is a unique feature of their condition?
A. Associated with epilepsy
B. Ectatic collecting ducts with usually normal nephrons
C. Common in newborns
D. Increases with the duration of ESRD
Correct Answer: B
Explanation:
Medullary Sponge Kidney is characterized by ectatic collecting ducts, but the nephrons are usually normal.
Memory Tool:
MSK - “My Sponge Keeps” to remember the presence of ectatic collecting ducts but normal nephrons.
Reference Citation:
ABLE 39.1, Paragraph 10
Rationale:
Understanding the unique characteristics can help you differentiate this condition from other kidney diseases.
Clinical Vignette:
A patient with a long history of End-stage Renal Disease (ESRD) develops multiple cysts in the kidneys. What additional risk is present?
A. Intracranial (berry) aneurysms
B. Hepatic fibrosis
C. Occasionally RCC
D. Retinitis pigmentosa
Correct Answer: C
Explanation:
Acquired renal cystic disease often increases the risk of RCC with the duration of ESRD.
Memory Tool:
ARCD - “Always Raising Cyst Duration” to remember the increasing risk of RCC with ESRD duration.
Reference Citation:
ABLE 39.1, Paragraph 11
Rationale:
Understanding the long-term risks of acquired diseases allows for better patient management and vigilance.
Clinical Vignette:
A newborn presents with large, homogeneous, echogenic kidneys. What chromosomal defect is most likely responsible?
A. Chromosome 6
B. Chromosome 16
C. Chromosome 9
D. Chromosome 4
Correct Answer: A
Explanation:
ARPKD is linked to a chromosomal defect on chromosome 6.
Memory Tool:
ARPKD- “Always 6 Rookies Play Kidney Doctors” to remember chromosome 6.
Reference Citation:
ABLE 39.1, Paragraph 1
Rationale:
Understanding genetic markers is crucial for diagnosis and potentially for familial counseling.
Clinical Vignette:
A 40-year-old man presents with renal cysts and diverticulitis. What extrarenal manifestation is specifically NOT expected?
A. Liver cysts
B. Retinitis pigmentosa
C. Mitral valve prolapse
D. Intracranial (berry) aneurysms
Correct Answer: B
Explanation:
ADPKD does not have retinitis pigmentosa as an extrarenal manifestation, unlike Juvenile nephronophthisis.
Memory Tool:
ADPKD- “Adults Don’t Prefer Retinal Issues” to remember the lack of retinitis pigmentosa.
Reference Citation:
ABLE 39.1, Paragraph 2
Rationale:
Understanding what is not a feature of a disease can be just as important in narrowing down diagnoses.
Clinical Vignette:
A young patient presents with renal cysts and a history of seizures. Which chromosome is implicated in the more common form of Tuberous Sclerosis?
A. TSC1: chromosome 9
B. TSC2: chromosome 16
C. PKD1: chromosome 16
D. Chromosome 3
Correct Answer: A
Explanation:
Tuberous sclerosis is often linked to TSC1 on chromosome 9.
Memory Tool:
TSC1 - “The 9 Scary Cysts” to remember chromosome 9.
Reference Citation:
ABLE 39.1, Paragraph 5
Rationale:
Chromosomal defects may provide insight into disease severity and progression, leading to targeted treatment options.
Clinical Vignette:
A 28-year-old patient presents with clear cell Renal Cell Carcinoma (RCC). Which of the following extrarenal manifestations is most likely also present?
A. Hepatic fibrosis
B. Cerebellar hemangioblastomas
C. Diverticulitis
D. Epilepsy
Correct Answer: B
Explanation:
von Hippel-Lindau disease is associated with cerebellar hemangioblastomas along with clear cell RCC.
Memory Tool:
VHL - “Very High Likelihood of cerebellar hemangioblastomas” to remember the associated extrarenal manifestation.
Reference Citation:
ABLE 39.1, Paragraph 6
Rationale:
Knowing extrarenal manifestations can assist in forming a more holistic diagnosis and treatment plan.
Clinical Vignette:
You encounter a newborn with renal maldevelopment showing diffuse cysts and remnants of early metanephros. What is unique about this condition?
A. It is inheritable
B. It is the most frequent renal cystic disease in newborns
C. Associated with retinitis pigmentosa
D. Commonly develops into RCC
Correct Answer: B
Explanation:
Multicystic Dysplastic Kidney is the most frequent renal cystic disease found in newborns.
Memory Tool:
MDK - “Mostly Diagnosed in Kids” to remember its high frequency in newborns.
Reference Citation:
ABLE 39.1, Paragraph 7
Rationale:
Understanding the epidemiology of diseases can guide diagnostic considerations in specific populations.
