Podcast
Questions and Answers
Which of the following is NOT a cause of medullary nephrocalcinosis?
Which of the following is NOT a cause of medullary nephrocalcinosis?
- Chronic graft rejection (correct)
- Bartter syndrome
- Distal RTA
- Sarcoid
Hypercalciuria is treated with potassium citrate and increased fluid intake.
Hypercalciuria is treated with potassium citrate and increased fluid intake.
True (A)
What appearance do the rounded densities in medulla have according to excretory urography?
What appearance do the rounded densities in medulla have according to excretory urography?
Paintbrush appearance or bouquet of flower appearance
The association of incomplete distal RTA is found in ______% of patients with $Ca_3(PO_4)_2$ stones.
The association of incomplete distal RTA is found in ______% of patients with $Ca_3(PO_4)_2$ stones.
Match the following conditions with their corresponding features:
Match the following conditions with their corresponding features:
What is the most common presentation of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
What is the most common presentation of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
Most patients with ADPKD develop End Stage Renal Disease (ESRD) by age 60.
Most patients with ADPKD develop End Stage Renal Disease (ESRD) by age 60.
What change in urination patterns is referred to as nocturia?
What change in urination patterns is referred to as nocturia?
Kidney stones in ADPKD are primarily composed of ______.
Kidney stones in ADPKD are primarily composed of ______.
Match the following complications to their descriptions:
Match the following complications to their descriptions:
Which clinical feature is NOT associated with Nail-Patella Syndrome?
Which clinical feature is NOT associated with Nail-Patella Syndrome?
The $Lmx18$ mutation is responsible for Nail-Patella Syndrome.
The $Lmx18$ mutation is responsible for Nail-Patella Syndrome.
What are the renal manifestations commonly seen in Nail-Patella Syndrome?
What are the renal manifestations commonly seen in Nail-Patella Syndrome?
Nail-Patella Syndrome can lead to _____ which rarely progresses to end-stage renal disease (ESRD).
Nail-Patella Syndrome can lead to _____ which rarely progresses to end-stage renal disease (ESRD).
Match the following features with their descriptions in Nail-Patella Syndrome:
Match the following features with their descriptions in Nail-Patella Syndrome:
Which condition primarily presents in young adults and is associated with high blood pressure?
Which condition primarily presents in young adults and is associated with high blood pressure?
Juvenile Nephronophthisis is primarily characterized by an increased number of cysts in the kidneys.
Juvenile Nephronophthisis is primarily characterized by an increased number of cysts in the kidneys.
What is the primary clinical feature triad of Medullary Sponge Kidney?
What is the primary clinical feature triad of Medullary Sponge Kidney?
ARPKD is commonly presented during the ______ period.
ARPKD is commonly presented during the ______ period.
Match the kidney diseases with their associated features:
Match the kidney diseases with their associated features:
Which clinical feature is NOT associated with the patient's condition?
Which clinical feature is NOT associated with the patient's condition?
The patient's anemia is caused by a deficiency in erythropoietin production.
The patient's anemia is caused by a deficiency in erythropoietin production.
What is the condition of the kidneys as shown by the ultrasound findings?
What is the condition of the kidneys as shown by the ultrasound findings?
Nephrogenic DI is associated with _____ fibrosis.
Nephrogenic DI is associated with _____ fibrosis.
Match the following conditions with their descriptions:
Match the following conditions with their descriptions:
What is the inheritance pattern of Juvenile Nephronophthisis?
What is the inheritance pattern of Juvenile Nephronophthisis?
MCDK typically presents in children under the age of 10.
MCDK typically presents in children under the age of 10.
What gene defect is associated with Juvenile Nephronophthisis?
What gene defect is associated with Juvenile Nephronophthisis?
MCDK is also known as _____.
MCDK is also known as _____.
Match the following features with the correct condition:
Match the following features with the correct condition:
What is the primary treatment for reducing osmolarity in patients with ADPKD?
What is the primary treatment for reducing osmolarity in patients with ADPKD?
Increasing fluid intake to 4-5 liters per day can help reduce cystic growth in ADPKD.
Increasing fluid intake to 4-5 liters per day can help reduce cystic growth in ADPKD.
What is the primary purpose of an MRI in the context of kidney evaluation?
What is the primary purpose of an MRI in the context of kidney evaluation?
The antibiotic used for cyst infections that penetrates well into the cyst is ______.
The antibiotic used for cyst infections that penetrates well into the cyst is ______.
Match the following treatments with their purposes:
Match the following treatments with their purposes:
What is the major cause of death in patients with ARPKD during the first year of life?
What is the major cause of death in patients with ARPKD during the first year of life?
ARPKD is caused by an autosomal dominant gene defect.
ARPKD is caused by an autosomal dominant gene defect.
What structural abnormality is commonly seen in kidneys affected by ARPKD during an ultrasound examination?
What structural abnormality is commonly seen in kidneys affected by ARPKD during an ultrasound examination?
The gene defect associated with ARPKD is located on chromosome ___ and affects the cilia/centrosome complex.
The gene defect associated with ARPKD is located on chromosome ___ and affects the cilia/centrosome complex.
Match the complications of ARPKD with their descriptions:
Match the complications of ARPKD with their descriptions:
Which of the following is a hallmark of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
Which of the following is a hallmark of Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
The gene defect responsible for ADPKD prominently involves polycystin 3.
The gene defect responsible for ADPKD prominently involves polycystin 3.
What age group requires at least 23 cysts for ADPKD diagnosis based on Ravinson's criteria?
What age group requires at least 23 cysts for ADPKD diagnosis based on Ravinson's criteria?
In ADPKD, hypertension is a common clinical feature that occurs due to ______.
In ADPKD, hypertension is a common clinical feature that occurs due to ______.
Match the following types of cystic kidney diseases with their characteristics:
Match the following types of cystic kidney diseases with their characteristics:
Which of the following conditions is associated with tubulointerstitial fibrosis related to diabetes?
Which of the following conditions is associated with tubulointerstitial fibrosis related to diabetes?
Chronic kidney disease is defined by more than 5% tubulointerstitial fibrosis.
Chronic kidney disease is defined by more than 5% tubulointerstitial fibrosis.
Name one drug that can cause tubulointerstitial fibrosis.
Name one drug that can cause tubulointerstitial fibrosis.
The disease characterized by scarring and atrophy of the tubules is known as _____
The disease characterized by scarring and atrophy of the tubules is known as _____
Match the following causes of chronic kidney disease with their pathology:
Match the following causes of chronic kidney disease with their pathology:
Which of the following features is NOT typically associated with chronic tubulointerstitial disease?
Which of the following features is NOT typically associated with chronic tubulointerstitial disease?
What is one metabolic condition that can lead to chronic tubulointerstitial disease?
What is one metabolic condition that can lead to chronic tubulointerstitial disease?
Ciliopathies are a significant etiology of chronic tubulointerstitial disease.
Ciliopathies are a significant etiology of chronic tubulointerstitial disease.
Study Notes
Nail Patella Syndrome
- Caused by a mutation in the LMX18 gene.
- Characterized by dystrophic nails, absent patella, iliac horn, and renal manifestations.
- Renal manifestations include adolescent microhematuria and proteinuria, which are usually benign and rarely progress to end-stage renal disease (ESRD).
- On examination, the nails may have a "moth-eaten" appearance.
Clinical Features
- Most commonly presents as an asymptomatic, incidental finding on ultrasound or family history.
- Abdominal discomfort can occur in patients between 20-40 years old due to kidney enlargement (renomegaly).
- Hypertension can lead to severe target organ damage.
- Nocturia is a change in urination frequency with more urination at night than during the day.
- Polyuria is increased urination.
- Anemia is less common due to maintained erythropoietin production.
Complications
- ESRD affects 60% of patients by age 60.
- Factors associated with worse prognosis and increased risk of early ESRD include:
- Black males
- Diagnosis before 30 years old
- Hematuria at diagnosis
- Hypertension before 35 years old
- PKD1 truncating mutation
- Kidney and cyst volume on MRI are the strongest predictors of declining kidney function.
- Cyst hemorrhage can cause hematuria.
- Cyst infection is commonly caused by E.coli.
- Renal stones are more likely to be uric acid than calcium oxalate.
- Cyst rupture is rare and can be caused by blunt abdominal trauma.
- Biventricular diastolic dysfunction can occur due to hypertension.
ADPKD vs ARPKD vs Juvenile Nephrophthisis
- ADPKD (autosomal dominant polycystic kidney disease) typically presents in young adulthood, while ARPKD (autosomal recessive polycystic kidney disease) presents perinatally.
- Both ADPKD and ARPKD are characterized by enlarged kidneys with multiple cysts.
- Juvenile nephronophthisis presents in children between 4-6 years old with a smaller number of cysts, and potentially lower blood pressure.
Medullary Sponge Kidney
- A non-ciliopathy, acquired disease typically presenting in middle age (30-50 years old).
- More prevalent in females in India but overall occurs in males and females equally.
- Does not increase the risk for CKD.
- Develops due to malformation of the terminal collecting duct, resulting in dilated spongy medullary and papillary collecting ducts, and a few cysts in the medulla.
- Characterized by a triad of recurrent stones, recurrent UTIs, and recurrent hematuria.
Nephrology Case Report
- Medullary sponge kidney can be associated with incomplete distal RTA, leading to calcium phosphate stones, Marfan's syndrome and Beckwith-Wiedemann syndrome.
- Investigations should include RFT, NCCT, and excretory urography.
- Excretory urography shows rounded densities in the medulla, resembling a "paintbrush appearance" or a "bouquet of flower appearance".
- Treatment focuses on managing hypercalciuria and hypocitraluria with potassium citrate and increased fluid intake.
- Cortical nephrocalcinosis can be caused by tuberculosis, chronic graft rejection, and oxalosis.
Nephrology Case Report
- Patient may present with asymptomatic, insidious onset.
- Polyuria, nocturia, anemia, nephrogenic DI, RTA IV (pseudohypoaldosteronism), RTA I, and severe ricketic features in children may be presenting symptoms.
- Polyuria and nocturia result from a defect in concentration capacity.
- Anemia is due to reduced erythropoietin production.
- Nephrogenic DI is caused by cortical collecting duct fibrosis.
- RTA IV results from P cell fibrosis, leading to decreased ADH and aldosterone action.
- RTA I is caused by alpha intercalated cell fibrosis.
- CKD with minimal anemia can be seen in autosomal dominant polycystic kidney disease (AD-PKD).
- Investigations include urine analysis, RFT, USG, and CKDU.
- The underlying pathophysiology remains unknown but proposed theories exist.
Juvenile Nephrophthisis vs MCDK
- Juvenile nephrophthisis is an autosomal recessive disease typically presenting in children between 5-7 years old.
- The gene defect in NPHP1, located on chromosome 2, affects the nephrocystin, leading to a defective cilia/centrosome complex.
- Pathological features include tubular basement membrane irregularities, tubular atrophy, shrunken kidney, few cysts, and interstitial fibrosis.
- Clinical features include salt wasting, polyuria, and failure to thrive.
- It is associated with extrarenal manifestations such as retinitis pigmentosa (Senior-Loken syndrome), oculomotor apraxia (Cogan syndrome), cerebellar aplasia (Joubert syndrome), and situs inversus.
- There is no recurrence after kidney transplant.
- MCDK (Multicystic Dysplastic Kidney) presents in adults and is autosomal dominant.
- The gene defect can be located on chromosome 1 or 16, affecting the uromodulin gene.
- Clinical features are similar to JN but include failure to thrive, hyperuricemia and gout, and insulin resistance.
Management & Investigations
- RFT is typically normal.
- USG is essential for diagnosis.
- MRI is used to evaluate the risk for ESRD.
- MRI can also be used to rule out ADPKD in patients with a family history - if there are no cysts on MRI after 30 years old, the patient can be considered a potential kidney donor.
Further Investigations
- CT scan, CT urography, and FDG PET scan can be used to assess for further complications such as cyst infection.
Treatment
- Reduce Osmolarity:
- Increasing fluid intake to 4-5 L/day
- Tolvaptan (DOC)
- Tight BP Control:
- SBP 95-110/DBP 60-75 mm Hg
- ACE inhibitors
- ARBs
Novel Therapies
- Somatostatin analogues and everolimus are potential novel therapies.
Prevention of Complications
- Watch for abdominal pain.
- Avoid blunt abdominal trauma to prevent cyst rupture.
- Potassium citrate should be used to alkalinize urine and prevent renal stones.
Treatment of Cyst Infection
- Antibiotics that penetrate the cyst include ciprofloxacin, cotrimoxazole, and carbapenems.
ESRD (CKD)
- Renal transplant is the definitive treatment for ESRD.
- Extra-renal associations, such as liver cysts, colonic diverticulum, and saccular aneurysm of the anterior circulation cannot be reversed.
ARPKD
- An autosomal recessive disease that can be diagnosed in utero.
- Gene defect is on chromosome 6, affecting the fibrocystin polyductin complex leading to defects in the cilia/centrosome complex.
- Seen in collecting duct, medullary cyst, biliary duct, and associated with congenital hepatic fibrosis, Caroli's syndrome, and biliary ectasia.
- Complications include pulmonary hypoplasia, portal hypertension, and very rarely ESRD.
- Investigations include USG, which shows hyperopic medulla and loss of corticomedullary differentiation.
Chronic Tubulointerstitial Disease
- Characterized by interstitial fibrosis and atrophy of the tubules and glomerular sclerosis.
- Causes include vascular, glomerular, and tubulointerstitial fibrosis.
- Pathological features include scarring, tubulointerstitial fibrosis, and atrophy.
- Etiology:
- Ciliopathies
- Reflex nephropathy (VUR)
- Obstructive nephropathy
- Medications: lithium, calcineurin inhibitors, proton pump inhibitors
- Toxins: lead, cadmium
- Metabolic: hypercalcemia, hyperuricemia, hyperoxaluria, hypokalemia
Ciliopathies
- Hereditary cystic disorders of the kidneys.
- Cilia function is regulated by polycystin and are required to maintain tubular epithelium differentiation.
- Defects in polycystin lead to ciliopathies and form cysts in the tubular epithelium.
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
- An autosomal dominant with variable expression.
- Gene defects are located on chromosome 6p (PKD1, 85% of cases) and chromosome 4q (PKD2, 15% of cases).
- The gene defects affect polycystins 1 and 2 respectively.
- Polycystin is also found in vascular smooth muscle, which explains the presence of hypertension in ADPKD patients.
- Diagnosis is based on ultrasound:
- ≥23 cysts (unilateral or bilateral) for those aged 15-39 years
- ≥ 2 cysts bilaterally for those aged 40-59 years
- ≥ 24 cysts bilaterally for those aged ≥60 years
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Description
This quiz covers the key aspects of Nail Patella Syndrome, including its genetic causes, clinical features, and potential complications. Learn about the symptoms such as dystrophic nails and renal issues, as well as the risk of end-stage renal disease. Test your understanding of this rare condition and its manifestations.
