The document discusses congenital abnormalities of the kidney and urinary tract in a 3 month old male patient. Key details include:
- The patient was admitted to the hospital with acute otitis and an abdominal mass was discovered on the left side.
- Renal ultrasound revealed hydronephrosis of the left kidney with severe functional reduction.
- The patient underwent left percutaneous nephrostomy which drained cloudy urine with pus.
- The patient was diagnosed with congenital anomalies of the kidney and urinary tract (CAKUT) including left hydronephrosis.
2. М.N. (male), 3 мо
Yong healthy parents
2-nd normal pregnancy
Normal perinatal history
BBW – 3450 g, length – 52 sm
Brest feeding
Normal physical and mental development
BW 3 mo – 5600 г. (normal)
4. ADMISSION STATUS
No
fever
Irritated
No appetite
Pale skin with grey shade
No other disorders
Belly - round form, abdominal mass
about 8 x 10 cm on the left side
8. Renal US
Вставить картинку!!!!!!
Right kidney 74 х 30 х 33
mm, parenchyma layer 7
mm
Left kidney 96 х 53 х 57
mm (N up do 50 mm)
Pelvis sinus left26mm, calic- up to 19 mm
The cortex layer - lots of
fluid inclusions (d) up to
22 mm.
Iliac dystopia of left
kidney
9. INTRAVENOUS UROGRAPHY
Left kidney shadow is approximately absent.
1,5-hour picture left side – several low
contrasted round shadows d= 0,7 - 2,0
sm, enlarged calyces.
Left kidney function non significant.
Conclusion: left hydronephrosis with severe
function reduction
19. CAKUT
Congenital anomalies of kidney and urinary
tract
1:500 live births
1:2000 neonatal deaths
Loane M, Dolk H, Kelly A, et al Paper 4: EUROCAT statistical monitoring:
identification and investigation of ten year trends of congenital anomalies in Europe.
Birth Defects Res A Clin Mol Teratol 2011;91 Suppl 1:S31-S43.
Anomalies of UT in 10% of relatives of
patients with CAKUT (usually
asymptomatic!) Winyard P, Chitty LS. Dysplastic kidneys.
Semin Fetal Neonatal Med 2008;13:142-151.
20. Jeffery Fletcher, Stephen McDonald , Stephen I. Alexander,
on behalf of the Australian and New Zealand Pediatric Nephrology Association (ANZPNA)
Prevalence of genetic renal disease in children
Pediatr Nephrol, 2012
21. СAKUT
KIDNEY
Renal agenesia- renal absence
Дисплазия почки- kidney contains an
undifferentiated tissue and can be small
(APLASIA) and extended due to cysts
(cystic dysplasia or MCDK)
Hypoplasia of kidney (kidney contains
normal nefrons, but few of them, or they are
big-oligomeganefronia)
The doubling of the collective system
(upper part is dysplastic, combined with
ureteral obstruction, lower-VUR)
Horseshoe kidney
URINARY TRACT
Агенезияотсутствие
«треугольника»
PUJ stenosis
Megaurether
Post. Urethral
valve
VUR
22. Stages of renal branching morphogenesis and nephron formation.
35-37 day of
gestation
Shah M M et al. Development 2004;131:1449-1462
(A) Stages of renal branching morphogenesis
and nephron formation. Ureteric bud (UB)
outgrowth from the Wolffian duct is induced by
signals from the metanephric mesenchyme
(MM) (A). (B,C) Invasion of the MM by the UB
is followed by iterative branching of the UB and
elongation of UB stalks. (D) At the tips of the
branches, the epithelium induces the
mesenchyme to form pre-tubular
aggregates, which are stimulated to undergo
mesenchymal to epithelial transformation (E,F)
through the formation of comma-shaped (E)
and S-shaped (F) bodies to form components
of the nephron (G): renal tubules (proximal and
distal) and the epithelial component of the
glomerulus. (B) Nephron endowment is thought
to be largely determined through branching of
the UB. (Left) The UB adopts a strategy of
lateral branching followed by bifurcation of a
stem into two daughter branches (terminal bifid
branching) to form the collecting system of the
kidney. Nephrons are induced at UB tips but
are also formed around the stem of elongating
branches during the later branching iterations
(arcades) and late-phase lateral branching.
(Right) The segments of the collecting system
proximal to the ureter (the renal pelvis and
calyces) are formed from early branching
segments of the UB that have dilated.
24. Nature Rev Genetics 3, 533-43, 2002 Coordinating early kidney development: lessons
from gene targeting
25.
26. Ontogenic mechanisms involved in the formation of CAKUT. A primary defect in either the
growing ureter or the differentiating metanephric blastema can cause both ureter and kidney.
POPE J C et al. JASN 1999;10:2018-2028
29. Kerecuk L et al. (2008) Renal tract malformations: perspectives for nephrologists
Nat Clin Pract Nephrol doi:10.1038/ncpneph0807
30. Effect of Drugs on Renal Development
Drug
Effect of Maternal Treatment during
Pregnancy on Offspring Kidney
Development
Effect of Treatment during Postnatal
Kidney Development
Aminoglycosides
Tubular alterations (16), low nephron
number (17–19)
Tubular damage (21), low nephron
number (19)
Cyclosporin A
Low nephron number (22)
Prostaglandin synthetase inhibitors
Tubular alterations (21), similar
nephron number (28)
Glomerular and tubular injury (21),
similar nephron number (21,26,27)
ACEIs/ARBs
Renal insufficiency (31)
Atrophy of the renal papilla, tubular
alterations (32), low nephron number
(33)
Dexamethasone
Altered tubular transporters (36,37),
low nephron number (5), similar
nephron number (38)
Low nephron number (5,35)
Furosemide
Renal concentrating defect (40)
—
Antiepileptic drugs
More congenital malformations,
specifically MCDK (44)
—
Mycophenolate mofetil
Renal agenesis/ectopia (45,46)
—
Adriamycin
Bladder agenesis, hydronephrosis (48)
—
Cyclophosphamide
Hydro(uretero)nephrosis (49)
—
Effect of Drugs on Renal Development Michiel F. Schreuder, CJASN January 2011 vol. 6 no. 1 212-217
31. РАЗВИТИЕ ПОЧКИ (В НОРМЕ И ПАТОЛОГИИ)
Гипоплазия почки –
меньше рядов нефронов
при
сохранной
экскреторной функции
Кистозная дисплазияпорочные
канальца,
маленькие
кисты,
остаточная экскреторная
функция, лоханка не
изменена
МКДП- нет функции,
нет
собирательной
системы
Аплазия-нет
первичного роста ткани
Larissa Kerecuk, Michiel F Schreuder and Adrian S Woolf, Renal tract malformations:
perspectives for nephrologists Nature Clinical Practice Nephrology (2008) 4, 312-325,
35. MULTICYSTIC DISPLASIA
John J. Bissler, Brian J. Siroky and Hong Yin Glomerulocystic kidney
disease Pediatr Nephrol. 2010 October; 25(10): 2049–2059.
39. Paradigm shift from classic anatomic theories to contemporary cell biological views of
CAKUT
Iekuni Ichikawa, Fumiyo Kuwayama, John C Pope IV, F Douglas Stephens and Yoichi
Miyazaki
43. Condition
Postnatal 99mTcFetal
Postnatal
DMSA
ultrasonographic ultrasonographic
renography
findings
findings
findings
Renal agenesis
Absent kidney
(adrenal gland
Absent kidney
might be mistaken
for kidney)
No renal uptake
(also rules out
ectopic kidney)
Renal aplasia
Absent kidney
(adrenal gland
Absent kidney
might be mistaken
for kidney)
No renal uptake
(also rules out
ectopic kidney)
Large cysts
replacing kidney
parenchyma and
Multicystic
lack of central
dysplastic kidney pelvis, or tiny
remnant kidney
(if organ
involuted)
Large
hypoechogenic
cysts not
communicating
with the renal
pelvis, or tiny
remnant kidney
(if organ
involuted)
No or very little
renal uptake19, 30
Further postnatal
radiological
assessment
Investigation of
contralateral
kidney (see
congenital solitary
kidney)
Investigation of
contralateral
kidney (see
congenital solitary
kidney)
Investigation of
contralateral
kidney (see
congenital solitary
kidney)
44. No renal uptake by
Kidney should be
Congenital solitary Kidney might be
absent kidney (also
larger than normal if
kidney
larger than normal
rules out ectopic
healthy
kidney)
Smooth kidney
outline
(pyelonephritic
Hypoplastic kidney Small kidney
Small kidney
scarring usually
produces focal
defects)
Echobright kidney
Cystic dysplastic
with cysts and poor Decreased renal
Echobright kidney
kidney
corticomedullary
uptake30
differentiation
Echobright, large
Autosomal recessive
Large, bright kidney kidney with small
polycystic kidney
cysts
Focal defects (but
not usually
performed)31
Generalized
Autosomal
Large, bright
Cysts that increase decreased uptake
dominant polycystic kidney, sometimes in size and number and focal defects
kidney
with cysts
with age
(but not usually
performed)32
Detection of any
vesicoureteric reflux
and/or ureteric
obstruction
Detection of any
vesicoureteric reflux
and/or ureteric
obstruction
Detection of any
vesicoureteric reflux
and/or ureteric
obstruction
Detection of dilated
bile ducts (by
hepatobiliary
iminodiacetic acid
isotope scan)
Detection of any
pancreatic or liver
cysts or cerebral
aneurysms