Multi cystic dysplastic kidney (renal dysplasia)

MULTI CYSTIC DYSPLASTIC KIDNEY
(Renal Dysplasia)
SUNIL KUMAR.P
Hematology & Transfusion Medicine
11-Feb-18 SUNIL KUMAR.P 1

Contents……………
• Introduction
• Renal Dysplasia
• MCDK
• Etiology
• Epidemiology
• Pathology
• Clinical features
• Gross Examination findings
• Microscopic examination findings
• Diagnosis
• Treatment

INTRODUCTION
• The term “Multicystic Renal dysplasia” or potter type II is defined as
abnormal metanephric differentiation, has variable presentations that
cover a spectrum of conditions, including
• hypoplasia,
• multicystic dysplasia, and aplasia.
• Overall, renal dysplasia is the leading cause of end-stage renal
disease in children.

Multicystic Dysplastic Kidney
• Replacement of the renal parenchyma by multiple cysts & non
functioning dysplastic tissue.
• MCDK, a variant of renal dysplasia, is one of the most frequently
identified congenital anomalies of the urinary tract.
• MCDK is a form of renal dysplasia …….
• characterized by the presence of multiple, non communicating cysts
of varying size separated by dysplastic parenchyma and the absence
of a normal pelvicalyceal system.

• The condition is associated with ureteral or ureteropelvic atresia, and
the affected kidney is nonfunctional.
• Other terms used to describe this condition include multicystic kidney
and multicystic renal dysplasia.
• MCDK is the most common cause of an abdominal mass in the
newborn period and is the most common cystic malformation of the
kidney in infancy.

Epidemiology
• Frequency
• International:
• Incidence of unilateral MCDK is reported to be 1 in 4300 live births,
• And the combined incidence of unilateral and bilateral MCDK is 1 in
3600 live births.
• Bilateral MCDK occurs in about 20% of prenatally diagnosed cases of
MCDK.
• The left kidney is involved in 55% of cases, and the right kidney is
involved in 45%

Mortality/Morbidity
• MCDK may persist without any change, may increase in size, or may
undergo spontaneous involution.
• Calcification may develop in persistent MCDK, particularly in adults,
and has been reported as early as age 3 months.
• Most cases of unilateral MCDK undergo spontaneous involution.
• Morbidity and mortality are uncommon in patients with a unilateral
MCKD and a normal contralateral kidney.
• Morbidity and mortality may result from UTI, hypertension, or
neoplasia.

• Bilateral MCDK usually results in stillbirth or death within the first few
days of life;
• however, an infant with bilateral MCDK who survived for 17 days was
reported.
• Bilateral MCDK is usually associated with oligohydramnios, pulmonary
hypoplasia, and Potter facies.
• Infants with bilateral MCDK who survive have renal failure from birth
and require dialysis from the first day of life

Etiology
• Atresia of the proximal ureter or PUJ during the metanephric phase of
intrauterine development.

Clinical presentation
• History
• Most cases of ….(MCDK) are detected during fetal USG and are
reported as early as 15 weeks' gestation.
• Prior to fetal USG, an ABD mass in the flank of an otherwise healthy
newborn was the most common clinical presentation of unilateral
MCDK.
• In prenatally diagnosed MCDK, the abnormal kidney is palpable in
only 13-22% of patients.
• The mass is usually mobile, ballottable, irregular in shape, non tender,
and might transilluminate.

Physical
• MCDK is usually asymptomatic and can remain undetected into
adulthood.
• Abdominal or flank pain and respiratory distress are uncommon
symptoms because of the pressure effect of the abnormal kidney.
• MCDK might be discovered during an investigation for….
• UTI,
• voiding dysfunction, or
• hypertension.
• MCDK may also be discovered when diagnostic imaging studies are
performed to investigate a non urinary problem.

Causes
• Multicystic dysplastic kidney has been reported in various syndromes,
including the following:
• 49,XXXXX syndrome:
• Beckwith-Wiedemann syndrome
• Hypoparathyroidism-deafness-renal syndrome: This autosomal
dominant syndrome is caused by mutations in
the GATA3 transcription factor.
• Williams syndrome: This syndrome is characterized by elfin
facies, mental retardation, supravalvular aortic stenosis, and neonatal
hypercalcemia

Nonrenal malformations
• GI
• Duodenal atresia
• Esophageal atresia

Neurologic
• Caudal agenesis
• Caudal regression syndrome
• Congenital deafness
• Hydrocephalus
• Mental retardation
• Microcephaly
• Microphthalmia

Pathology
• The kidney is enlarged & replaced by multiple cysts &
undifferentiated mesenchymal tissue.
• The ureter is atretic.
• The renal vessels are small or atretic.
• Contralateral associated abnormalities.
• PUJ obstruction.
• Vesicoureteric reflux. Bilateral MCDK is incompatible with life.

During the foetal development……..

• In normal development, the kidney is derived from 2 components of the embryonic metanephros.
• the metanephric parenchyma, which undergoes an epithelial transformation to form nephrons,
and the ureteric bud, an epithelium that branches to form collecting ducts.
• On a molecular basis, the conversion of metanephric parenchyma to nephron epithelia requires
many transcriptional factors,

• including
• WT1;
• eyes absent homolog 1 (EYA1);
• forkhead box C1 (FOXC1);
• PAX2;
• PAX8; growth differentiation factor 11 (GDF11);
• sal-like 1 (SALL1);
• SIX homeobox 1 (SIX1);
• wingless-type MMTV integration site family, member 4 (WNT4);
• and GATA binding protein 3 (GATA3).

Diagnosis
• Urine analysis
• Biochemical Investigations : BUN, S,Crea,S.Electrolytes
• Imaging Studies
• Renal ultrasonography:
• Ultrasonography reveals a kidney that contains multiple cysts of
variable size that are randomly arranged and are separated by little or
no echogenic parenchyma.

Voiding cystourethrography (VCUG)
• VCUG should be performed to look for vesicoureteral reflux (VUR).
Current recommendations for patients with unilateral MCDK include
evaluation of the contralateral kidney for VUR by VCUG.

Dimercaptosuccinic acid (DMSA) renal
scanning
• DMSA renal scanning may be necessary if ultrasonography does not
reveal the classic features of MCDK.
• DMSA renal scanning demonstrates absence of function in the kidney
with MCDK.

Other Imaging Studies
• Technetium Tc 99m diethylenetriamine pentaacetic acid (DTPA)
• or technetium Tc 99m mercaptoacetyltriglycine (MAG-3) renal
scanning.
• Intravenous pyelography (IVP)
• Cystoscopy

USG KIDNEY

Histologic Findings
• Gross Features/ macroscopic features:
• Their gross morphologies show multiple large irregular cystic masses
or small rudimentary structures.
• The kidney with MCDK is enlarged,
• Kidney is abnormally shaped, and often resembles a bunch of grapes.
• The numerous and irregularly sized cysts range from less than 1 mm
to several centimeters in diameter.

• The cysts contain a clear or yellow fluid and are connected by a
fibrous tissue stroma.
• The usual reniform configuration of the kidney is obscured by the
cysts and by a lack of pelvocaliceal differentiation.
• Nodular masses are present in a medial and central location in some
kidneys and might represent pelvic atresia.
• MCDK might be present in only the upper or lower pole of a
duplicated collecting system.
• Ureteral or ureteropelvic atresia is always present.

Gross Findings : Normal VS MCKD
Normal Kidney MCDK

Gross Features / macroscopic features:

MCDK

Histologic Findings
• Microscopic Findings :
• Renal dysplasia is characterized principally by primitive ducts with a
fibromuscular collar and lobar disorganization.
• Disorganized parenchyma that is distorted by cysts of various sizes,
lined by flattened to cuboidal epithelium
• May contain nodular blastema (undifferentiated cells), islands of
undifferentiated mesenchyme, cartilage (10% - 20%).

MICROSCOPIC FINDINGS

MULTICYSTIC RENAL DYSPLASIA

THANK YOU

Multi cystic dysplastic kidney (renal dysplasia)

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