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Urolithiasis and nephrocalcinosis in
children.
Alexey Tsygin, MD
Centre for Children’s Health NCZD
Moscow
Leuven, 02.09.2015
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Terminology
• Nephrolithiasis – formation and
localization of stones in the kidney
• Urolithiasis – stones in the kidney and
anywhere in urinary tract
• Nephrocalcinosis – deposition of calcium
in renal tubuli and interstitium
A.Tsygin
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Stone surgery
Lithotomist
A.Tsygin
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Epidemiology
• Incidence 1:1000 per year (adults)
• Children 1-2 per 1000000 per year
• Peak onset 20 - 35 years of age
• Male:Female 3 - 4 : 1 (children 3:2)
• In their lifetime 2 - 5% of the Asian population
8 - 15% of North Americans and Europeans will form stones
• Up to 20% of stone formers have family history of urolithiasis
A.Trinchieri, 2008
M.Lopes, B.Hoppe, 2008 A.Tsygin
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Urolithiasis recurrence rate
• 40 % in 2 - 3 years
• 55% in 5 - 7 years
• 75% in 7 - 10 years
• 100% in 15 - 20 years
A.Tsygin
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Patophysiology of stone formation
• Urine hypersaturation
• Crystal nucleation (nidus)
• Crystal aggregation
• Stone growth
A.Tsygin
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Inhibitors & Promoters of Stone Formation in
Urine
INHIBITORS
Inhibits crystal Growth -
• Citrate – complexes with
Ca
• Magnesium – complexes
with oxalates
• Pyrphosphate -
complexes with Ca
• Zinc
Inhibits crystal Aggregation
• Glycosaminoglycans
• Nephrocalcin
• Tamm- Horsfall Protein
– Oxalobacter (gut)
PROMOTERS • Bacterial Infection
• Anatomic Abnormalities –
PUJ obst., MSK
• Altered Ca and oxalate
transport in renal epithelia
• Prolonged immobilisation
• Increased uric acid levels
I.e taking increased purine
subs– promotes
crystalisation of Ca and
oxalate
• ?? Nanobacteria – seen in
97% of renal stones
A.Tsygin
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Ca (mmol/L)
100 % calcium oxalate +
uri
c a
cid
+ c
arb
on
ate
apat
ite
0.0
2.5
5.0
7.5
10.0
12.5
5.0 5.5 6.0 6.5 7.0
pH
+ brushite
A.Tsygin
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Types of stones composition
1.Calcium stones account for 80 % of all kidney stones
-Calcium oxalate (monohydrate and dihydrate) the
most common
-Calcium phosphate
2.Uric acid stones
3.Struvite stones (composed of magnesium, ammonium, calcium and phosphate)
4.Cystine stones
5.Drug-associated stones (Vit.D, Indinavir, ceftriaxon etc.)
6.Xantine stones (very rare)
Borgmann and Nagel, 1982
A.Tsygin
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Underlying diseases and conditions for nephrolithiasis
Stones composition Causes
Calcium oxalate ↑ Ca, ↑ Ox, ↓ Cit, ↑ UA (idiopathic hypercalciuria,
PHO, secondary HO)
Struvit Urinary tract infection
Calcium phosphate Urinary tract infection, distal RTA, immobilization,
↑ PTH
Uric acid Hyperuricosuria, ↓ urine pH
Ammonium urate Urinary tract infection, endemic
Cystine Cystinuria
Leumann & Hoppe, 1997, adapted
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120 детей с
11.2008 по
07.2015
окс 74,
вев 19,
вед 34,
в+в 21
фосф 18 струвит 3
моч к-та 9,
дигидрат 3,
тригидрокс
ипурин 4,
урат
аммония-2
цистин 6 окс+фос
ф 6
окс+моч
4
62% (74) оксалат кальция (вевелит 16%, веделит 28%, вев+вед 18%)
15% (18) фосфат кальция
8% (9) из моч к-ты (дигидрат моч к-ты 3%, тригидроксипурин 3%, урат аммония 2%)
3% (3) струвит
5% (6) L-цистин
8% (10) смешанные (окс+фосф 5%, окс+моч 3%)
CaOx 62%
CaPhos
15%
UricAcid 8%
Struvit 3%
Cystin 5% Mixed
8%
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Clinical presentation
• Often asymptomatic or symptoms of concomitant
disease
• Renal colic/pain
• Urinary tract infection
• Dysuria
• Hematuria (up to 30% - gross hematuria)
A.Tsygin
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Investigation-1
• Visualization
– US informative in most cases except of
uretheral stones localization
– Non-contrast CT for that and other cases
– Intravenous pyelography to evaluate
obstruction
A.Tsygin
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A.Ts
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A.Tsygin
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Investigation-2
• Urine tests
– Ca, Na, K, Cl, P, uric
acid, pH, bicarbonate,
creatinin, oxalate,
citrate, culture,
albumin, sediment
• Blood tests
– Ca, Na, K, Cl, uric
acid, pH, bicarbonate,
creatinin, PTH, vit.D,
molecular genetic
Guidelines for Urolithiasis. www.uroweb.org/guidelines
A.Tsygin
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Crystals in urine
Ca oxalate monohydrate Ca oxalate dihydrate
A.Tsygin
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Crystals in urine
Ca phosphate bruschite Uric acid
A.Tsygin
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Crystals in urine
Struvite Cystine
A.Tsygin
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Stones image
Cystine Struvite staghorn Calcium
Ca oxalate Uric acid A.Tsygin
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Stones analysis
• X-ray diffraction
• Infra-red specroscopy
A.Tsygin
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6 years old male
• Healthy parents, older sister with nephrocalcinosis, three healthy sibs
• Thirst and polyuria from infancy
• US-signs of nephrocalcinosis at 2 y.o.
• Urinalysis – WBC 10-20 /hpf, no bacteria, pH 5,0-6,0
• Urinary oxalate >50 mg/24h, normal Ca and P
• Blood рН 7,427
• Serum creatinin 80 µmol/l (GFR 67,2 ml/min)
• Renal colic and stone passage at 5 y.o.
• Stone composition (X-ray diffraction): Calcium oxalate monohydrat (Whevellite)
• AGXT gene sequencing: HI971435(c.33dupC) + deletion с.959_960delCA).
10 20 30 40 50 60
2
CaC2O
4·H
2O
Образец
A.Tsygin
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A.Tsygin
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Family with PHO-I
10 ex. с.959-960 del CA 1 ex. с.33 dup C
1 ex.
с.33 dup C
10 ex. с.959-
960 del CA
1 ex.
с.33 dup C
10 ex. с.959-
960 del CA
1 ex.
с.33 dup C
6 18 13 12 10
A.Tsygin
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A.Tsygin
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Primary hyperoxaluria
• Type I: Alanin-glyoxilate
aminotransferase (AGT) deficiency in
the liver due to mutations in AGXT
gene. Urinary oxalate and glycolate
increased.
• Type II: Glyoxilate reductase deficiency
with L-glycerate hyperexcretion (better
prognosis)
A.Tsygin
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Treatment of primary hyperoxaluria
• High fluid intake (>2 l/ m2)
• Citrate K/Na (100-150 mg/kg/day)
• Hydroxychlorthiazide (?)
• Piridoxin (Vit В6) 5-10 mg/kg/day
• ESWL
• Combined liver and preemptive kidney Tx
Cochat et al, 2014
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Severe oxalosis (С.З46G>А и С.508G>А АGХТ)
A.Tsygin
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Absorptive hyperoxaluria
• In Crohn disease and short bowel
syndrome
• Normal people absorb < 5% of dietary
oxalate
• Foods rich in oxalate (spinach, chocolate,
beets, peanuts) can absorption 25 - 50%
• Low calcium diets intestinal absorption
and urinary oxalate excretion
A.Tsygin
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Cystinuria
• Autosomal recessive disorder caused by a
tubular defect in dibasic amino acid transport
• Excrete excessive amounts of cystine, ornithine,
lysine and arginine
• Cystine is soluble in the urine to a level of only
24 - 48 mg/dl
• In affected patients, the excretion is 480 - 3500
mg/day
• Stones of medium radio opacity
A.Tsygin
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Cystinuria
• Treatment
– increase urine volume to maintain solubility
( 240 - 480 mg/l)
– urine pH > 7.5 (K citrate)
– Restrict dietary sodium
– Tiopronin or D-penicillamine bind cystine and
reduce urine supersaturation
– Surgery difficult
– High recurrence
– Rarely progress to ESRD
A.Tsygin
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Uric acid stones
– Urinary pH < 5.5, urine volume
Hyperuricosuria
• Genetic overproduction (Leich-Nyhan syndrome etc.)
• Myeloproliferative disorders
• High purine diet
• Drugs
– Radiolucent
– Treatment: fluid intake, purine diet, urinary
alkalinization (pH 6.5 - 7.0) with potassium citrate ,
allopurinol to reduce 24 hour uric acid excretion
Ngo & Assimos, 2007
A.Tsygin
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Struvite stones
• Magnesium ammonium phosphate
• More common in women than men
• Most common cause of staghorn calculi
• Grow rapidly, may lead to severe pyelonephritis or urosepsis, obstruction and renal failure
• Heterogenous and laminated on X-ray
• Caused often by infections by organisms with urease ( Proteus, Klebsiella, Pseudomonas, and Serratia)
• Hydrolysis of urea yields ammonia and hydroxyl ions, consumes H+ and thusurine pH
• urine pH increases saturation of struvite
• Treatment: Complete removal, prolonged antibiotic course, fluid, avoid alkali
K.Bichler, 2002
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Treatment of colic
• Fluid if obstruction is not severe
• Pain: NSAID or morphine
• Prednisolone
• Nifedipin
A.Tsygin
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Stone removal procedures
• Stones <5 mm pass spontaneously
• ESWL
• Percutaneous nephrolithotomy (PNL)
• Open surgery
• Uretheroscopy
A.Tsygin
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Urolithiasis. General considerations.
• Give more water
• Restrict sodium, protein and fat
• Treat UTI
• Do not restrict calcium
• Adjust urine pH according to stone
composition/ethiology
• ESWL when stones>1 cm. Try to remove stones
completely
• Metaphylaxis usually life long
A.Tsygin
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Nephrocalcinosis
• May be a consequence of furosemid and
corticosteroid treatment in premature
babies
• Usually does not progress in that cases
• Most of other causes are genetic
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Williams syndrome
• 1:7500-20000
• Microdeletions in elastin gene
• “Elphin” facies
• Aortal stenosis, other cardiac abnormalities
• Muscular hypotony, motoric delay
• Hypercalcemia, Calciuria, nephrocalcinosis
• 6 months female: 6,7 kg, 70 cm – Са – до 2,88 mmol/l, Ca2+ 1,41
mmol/l
– P – 1,78 mmol/l
– Creatinin – 49 mcmol/l
– PTH – 14.80 pg/ml
– pH 7.398, SB 25.6 mmol/l
A.Tsygin
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Distal Renal Tubular acidosis
• Most of patients with Type I RTA have nephrocalcinosis or nephrolithiasis (Ca phosphate) or both
• Mechanism for stone formation – Hypocitraturia due to acidosis
– Hypercalciuria: acidosis bone resorption
– Alkaline urine pH: defect in H excretion
• Rickets, poor growth
• Treatment: water, K Citrate, thiazides if severe calciuria
A.Tsygin
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Familial hypercalciuria with hypomagnesemia and
nephrocalcinosis (FHHN)
• Rare autosomal-recessive disease
• Deficit of tight junction protein in thin ascendent
part of Henle loop Claudin 16 ( CLDN 16 gene)
• Defect of Ca and Mg reabsorbtion
• Manifestation: muscular hypotony,
nephrocalcinosis, urolithiasis, polyuria, high PTH
• Can progress to CRD
• Treatment: citrate, thiazides, Mg
M.Praga, 1995 A.Tsygin
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Dent’s disease
• X-linked (proximal) tubular disorder (CLCN5
gene)
• Fancony syndrome (may be incomplete)
• Rickets ±
• Calciuria with low molecular weight proteinuria
• Nephrocalcinosis in most of affected
• May progress to ESRD
• Treatment: K citrate, hydrochlorothiazide
(potassium control!!!), indomethacin (?)
H.K.Burgess, 2001 A.Tsygin
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Neonatal Bartter syndrome
• Hypokalemic hypochloremic metabolic
alkalosis with polyuria and
nephrocalcinosis (ROMK2, NKCC2 genes)
• Failure to thrive, poor survival
• Water, sodium and potassium
replacement, indomethacin
A.Tsygin