this case is nuts - ohsuregularly consumed alcohol, or used illicit drugs. family: • has one...
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This Case Is NutsPRESENTED BY: R LOGAN JONES, MD
ACP – OREGON CHAPTER ANNUAL MEETING
SALEM, OR; NOV 8TH 2018
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Generally healthy man in his 60s Non-substance user
Proud Vegetarian CKD 3 without proteinuria
Horseshoe kidney Recurrent oxalate renal stones
Multiple procedures for nephrolithiasis No history of UTI
Right CVA tenderness Recent CT with non-obstructive stones
New Patient to ClinicChief Complaint : Right Flank Pain
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My Assessment
RENAL COLIC SECONDARY TO RECURRENT NEPHROLITHIASIS
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“Pity the hurried
practitioner”
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Reviewing outside records while staffing...
Things get interesting!
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24-Hour Urine Collection
Urine Oxalate 460 mg/day
EXTREME
HYPEROXALURIA
460 mg/day
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“Extreme Hyperoxaluria”
Urology:• Impressed by magnitude of
hyperoxaluira• Concerns for primary genetic
disease –“Primary Hyperoxaluria”
“The practice of medicine requires
knowledge of basic science”
What now?
“The Wise Counsel of the
Specialist is Comforting”
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Hyperoxaluria = Too Much Oxalate in the Urine
Oxalate
Primary Hyperoxaluria• Too much endogenous oxalate production• Oxalate via collagen catabolism as a “dead-end”
metabolic byproduct
Secondary Hyperoxaluria
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Primary Hyperoxaluria (PH)
PH 1• Represents 80% of cases• Usually presents in childhood• Nearly all are ESRD by 5th decade
PH 2• Represents ~10% of cases
PH 3• Presents during childhood/adolescence
Cochat,P. N Engl J Med 2013; 369:649-658
HEPATOCYTE
Peroxisome Cytosol
Mitochondria
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Cochat,P. N Engl J Med 2013; 369:649-658
Glyoxylate
Glycine
Oxalate
Glycolate
“HOMEOSTASIS”
Normal PhysiologyCollagen Hydoxyproline
“PH” Related Enzymes
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Cochat,P. N Engl J Med 2013; 369:649-658
Glyoxylate
Glycine
Oxalate
Glycolate
DISEASE STATE
“PH” Related Enzymes
PRIMARYHYPEROXALURIA
Collagen Hydoxyproline
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Hyperoxaluria = Too Much Oxalate in the Urine
Oxalate
Primary Hyperoxaluria• Too much endogenous oxalate production• Oxalate via collagen catabolism as a “dead-end”
metabolic byproduct
Secondary Hyperoxaluria• Too much absorbed oxalate from exogenous
sources• Mostly from plant-based foods
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Secondary Hyperoxaluria
Enteric Hyperoxaluria - Decreased Calcium & Increased Bile Acid
Increased Total Oxalate Content -Oxalate Overload
Bernadino,M, et al. CMAJ December 12, 2016 cmaj.151327
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“Methodical examination leads to
safe inductions”
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Recurrent Renal Stones:American Urologic Association Guidelines
1. Obtain a detailed medical and dietary history, serum chemistries and urinalysis
2. When a stone is available, clinicians should obtain a stone analysis at least once.
3. Clinicians should obtain or review available imaging studies to quantify stone burden.
Pearle MS, et al. AUA. Medical Management of Kidney Stones. 2014.
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Adapted from: Bhasin,B, et al. World J Nephrol. May 6, 2015; 4(2): 235-244
Approach to Hyperoxaluria
Clinical feature Primary Hyperoxaluria Secondary Hyperoxaluria
24-hr Urinary Excretion > 90 mg per day < 90mg per day
Clinical Presentation
-Usually before 5th decade-Recurrent stones-Nephrocalcinosis-ESRD or ESLD common
-Recurrent renal stones-Occasional Nephrocalcinosis-Occasional CKD and ESRD
Presence of Systemic Oxalosis
Frequent part of the presentation
Less common
HistoryFamily history is often suggestive with other affected relatives
History of GI tract disease or dietary history may suggest cause
Composition of Renal Stones
95% calcium oxalate monohydrate (whewellite)
Mixed stones (whewellite and weddellite)
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Adapted from: Bhasin,B, et al. World J Nephrol. May 6, 2015; 4(2): 235-244
Approach to Hyperoxaluria
Clinical feature Primary Hyperoxaluria Secondary Hyperoxaluria
24-hr Urinary Excretion > 90 mg per day < 90 mg per day
Clinical Presentation
-Usually before 5th decade-Recurrent stones-Nephrocalcinosis-ESRD or ESLD common
-Recurrent renal stones-Occasional Nephrocalcinosis-Occasional CKD and ESRD
Presence of Systemic Oxalosis
Frequent part of the presentation
Less common
HistoryFamily history is often suggestive with other affected relatives
History of GI tract disease or dietary history may suggest cause
Composition of Renal Stones
95% calcium oxalate monohydrate (whewellite)
Mixed stones (whewellite and weddellite)
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Cochat,P. N Engl J Med 2013; 369:649-658
Stages of CKD by eGFR
CKD 1-3 CKD 4-5 ESRD
Progression of Primary Hyperoxaluria
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1. K. Sriram, Nitin S. Kekre, Ganesh Gopalakrishnan. Primary hyperoxaluria and systemic oxalosis. 20072. S. Strauss, et al. Pediatric RadiologyJanuary 2017, Volume 47, Issue 1, pp 96–103
Oxalosis
• Oxalate crystal deposits in
• Bone
• Heart
• Blood Vessels
• Kidney
Example: Primary HyperoxaluriaPatient’s Imaging
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1:700,000 lifetime odds Lifetime risk of being killed by an
earth/space object collision (Alan Harris – Astronomer)
1:800,000 live births Risk of our patient developing adult onset
Primary Hyperoxaluria type 1
Cochat,P. N Engl J Med 2013; 369:649-658
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“Be satisfied with probabilities in
diagnosis”
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Adapted from: Bhasin,B, et al. World J Nephrol. May 6, 2015; 4(2): 235-244
Approach to Hyperoxaluria
Clinical feature Primary Hyperoxaluria Secondary Hyperoxaluria
24-hr Urinary Excretion > 90 mg per day < 90 mg per day
Clinical Presentation
-Usually before 5th decade-Recurrent stones-Nephrocalcinosis-ESRD or ESLD common
-Recurrent renal stones-Occasional Nephrocalcinosis-Occasional CKD and ESRD
Presence of Systemic Oxalosis
Frequent part of the presentation
Less common
HistoryFamily history is often suggestive with other affected relatives
History of GI tract disease or dietary history may suggest cause
Composition of Renal Stones
95% calcium oxalate monohydrate (whewellite)
Mixed stones (whewellite and weddellite)
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Adapted from: Bhasin,B, et al. World J Nephrol. May 6, 2015; 4(2): 235-244
Approach to Hyperoxaluria
Clinical feature Primary Hyperoxaluria Secondary Hyperoxaluria
24-hr Urinary Excretion > 90 mg per day < 90 mg per day
Clinical Presentation
-Usually before 5th decade-Recurrent stones-Nephrocalcinosis-ESRD or ESLD common
-Recurrent renal stones-Occasional Nephrocalcinosis-Occasional CKD and ESRD
Presence of Systemic Oxalosis
Frequent part of the presentation
Less common
HistoryFamily history is often suggestive with other affected relatives
History of GI tract disease or dietary history may suggest cause
Composition of Renal Stones
95% calcium oxalate monohydrate (whewellite)
Mixed stones (whewellite and weddellite)
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“Listen to the patient, he is telling you the
diagnosis”
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Detailed Patient HistorySocial:
•Recently moved to Portland
•Does not exercise
•Lifelong vegetarian – eats mostly nuts for protein
•He never smoked cigarettes, regularly consumed alcohol, or used illicit drugs.
Family:
•Has one daughter, also with a horseshoe kidney
•No history of end-stage kidney, liver, or heart disease
• I haven’t eaten meat in decades
• I eat a bowl of cashews and a bowl of peanuts everyday for protein
• I will also eat potato chips, and sometimes some veggies
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0
100
200
300
400
500
600
700
800
0 1 2 3 4 5 6 7 8 9
Mili
gram
s o
f O
xala
teOur Patient’s Dietary Journal: Cumulative Daily Oxalate in milligrams
Average American Intake
Our Patient’s Intake
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Adapted from: Bhasin,B, et al. World J Nephrol. May 6, 2015; 4(2): 235-244
Approach to Hyperoxaluria
Clinical feature Primary Hyperoxaluria Secondary Hyperoxaluria
24-hr Urinary Excretion > 90 mg per day < 90 mg per day
Clinical Presentation
-Usually before 5th decade-Recurrent stones-Nephrocalcinosis-ESRD or ESLD common
-Recurrent renal stones-Occasional Nephrocalcinosis-Occasional CKD and ESRD
Presence of Systemic Oxalosis
Frequent part of the presentation
Less common
HistoryFamily history is often suggestive with other affected relatives
History of GI tract disease or dietary history may suggest cause
Composition of Renal Stones
95% calcium oxalate monohydrate (whewellite)
Mixed stones (whewellite and weddellite)
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Adapted from: Bhasin,B, et al. World J Nephrol. May 6, 2015; 4(2): 235-244
Approach to Hyperoxaluria
Clinical feature Primary Hyperoxaluria Secondary Hyperoxaluria
24-hr Urinary Excretion > 90 mg per day < 90 mg per day
Clinical Presentation
-Usually before 5th decade-Recurrent stones-Nephrocalcinosis-ESRD or ESLD common
-Recurrent renal stones-Occasional Nephrocalcinosis-Occasional CKD and ESRD
Presence of Systemic Oxalosis
Frequent part of the presentation
Less common
HistoryFamily history is often suggestive with other affected relatives
History of GI tract disease or dietary history may suggest cause
Composition of Renal Stones
95% calcium oxalate monohydrate (whewellite)
Mixed stones (whewellite and weddellite)
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Calcium Oxalate Monohydrate (Whewhellite)
Calcium Oxalate Dihydrate
(Weddelite)
.
Clouter,J et al. World J Urol. 2015; 33: 157–169Daudon,M et al. Comptes Rendu Chemie. 19(11) · June 2016
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Mixed stone:-80% calcium oxalate monohydrate- 20% calcium oxalate dihydrate.
Clouter,J et al. World J Urol. 2015; 33: 157–169Daudon,M et al. Comptes Rendu Chemie. 19(11) · June 2016
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Adapted from: Bhasin,B, et al. World J Nephrol. May 6, 2015; 4(2): 235-244
Approach to Hyperoxaluria
Clinical feature Primary Hyperoxaluria Secondary Hyperoxaluria
24-hr Urinary Excretion > 90 mg per day < 90 mg per day
Clinical Presentation
-Usually before 5th decade-Recurrent stones-Nephrocalcinosis-ESRD or ESLD common
-Recurrent renal stones-Occasional Nephrocalcinosis-Occasional CKD and ESRD
Presence of Systemic Oxalosis
Frequent part of the presentation
Less common
HistoryFamily history is often suggestive with other affected relatives
History of GI tract disease or dietary history may suggest cause
Composition of Renal Stones
95% calcium oxalate monohydrate (whewellite)
Mixed stones (whewellite and weddellite)
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Hypothesis & Interventions
• Very-high lifelong oxalate intake
• Horseshoe kidney
• Progressive CKD • Anatomic disease• Possible oxalate crystal
nephropathy
• Inability to handle oxalate secretion thus leading to stone formations
• Oxalate restricted diet• Stopped cashews, cut down
on peanuts
• Recommended Calcium Carbonate 1-2 tabs with meals• Oxalate binder
• Re-check 24-hour urine studies
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Post-Interventions
Pre-Interventions
DATE 24-Hour Oxalate Level
11/16/17 460 mg
8/28/18 80 mg
REFERENCE RANGE 20-40
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Take Home Points
● A systematic approach can make sense of diagnosis in unfamiliar disease processes
● Patients with recurrent episodes of nephrolithiasis should be evaluated by:○ 24-hour metabolic urine studies○ Stone analysis○ Dietary History
● The majority adult-onset hyperoxaluria with be due to secondary causes
● Patients with oxalate stones should be counseled to avoid high oxalate containing foods such as leafy greens, chocolate, potatoes, and nuts.