History
Autosomal recessive polycystic kidney disease
At birth, babies may present with large palpable flank masses that may cause difficulty in delivery. These babies may have classic Potter facies and abnormal extremities.
Parents or pediatricians may discover abdominal masses in older infants. Older infants may have abdominal distension secondary to renal masses or hepatosplenomegaly.
All patients with autosomal recessive polycystic kidney disease can present with urinary concentrating defects that can cause polyuria and polydipsia.
Autosomal dominant polycystic kidney disease (ADPKD)
The initial presentation in older children includes the following:
-
Abdominal pain
-
Urinary tract infections - These may manifest as pain, perinephric abscess, hemorrhage, chronic pyelonephritis, sepsis, and death
-
Abdominal or inguinal hernias
-
Renal insufficiency (rarely occurs in childhood)
-
Concentrating defects that cause polydipsia and polyuria (more common in autosomal recessive polycystic kidney disease)
-
Extrarenal manifestations of autosomal dominant polycystic kidney disease (more common in adults but can occur in children as young as age 1 y)
Physical Examination
Autosomal recessive polycystic kidney disease
Patients present prenatally with massively enlarged kidneys and oligohydramnios. In infants, Potter facies with low-set, flattened ears; short, snubbed nose; deep eye creases; and micrognathia, all secondary to oligohydramnios, can be found. Clubfoot commonly occurs secondary to oligohydramnios because of pressure effect in utero.
An abdominal mass may manifest after the newborn period because of renal masses or hepatosplenomegaly. Impaired renal function is present in 70-80% of infants. Renal cysts in children may be an incidental finding.
Hepatic involvement is present in all children with autosomal recessive polycystic kidney disease but may not manifest in neonates (50-60%).
Hypertension may be severe and may be a presenting feature, even in patients with normal renal function. The pathophysiology is unknown, because renin levels are within the reference range. Cardiac hypertrophy and congestive heart failure (which may develop in patients with poorly managed hypertension) can also occur, and there can be evidence of portal hypertension.
Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease commonly presents as low back pain with or without abdominal pain. [12] Hypertension can present in patients of all age groups (even in patients with normal renal function), as a result of increased activation of the renin-angiotensin system, reduced renal blood flow, and sodium retention. In addition, patients may have signs of portal hypertension and CHF (although this is rare compared with autosomal recessive polycystic kidney disease).
Other presentations include the following:
-
Manifestations of stroke secondary to cerebral hemorrhage of ruptured aneurysms
-
Renal involvement - Often asymmetrical but usually bilateral
-
Renal masses
-
Hepatic cysts - These are usually asymptomatic in children, unlike in adults, in whom pain, infection, and hepatomegaly are present
-
Cerebral vessel aneurysms
-
Cardiovascular system manifestations - Mitral valve prolapse and, in children as well as adults, endocardial fibroelastosis
-
Increased left ventricular mass with diastolic dysfunction , even in normotensive children
-
Coronary aneurysms - Exclusively in adults
-
Sonogram shows cysts with bilaterally enlarged kidneys. These findings are compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
-
Sonogram shows cysts with bilaterally enlarged kidneys. These findings are compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
-
Sonogram shows cysts with bilaterally enlarged kidneys. These findings are compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
-
Frontal excretory urogram of autosomal dominant polycystic kidney disease (ADPKD) shows a spider-legs configuration of the collecting system secondary to compression due to cysts.
-
Lateral excretory urogram of autosomal dominant polycystic kidney disease (ADPKD) shows a spider-legs configuration of the collecting system secondary to compression due to cysts.
-
Pathologic specimen of end-stage autosomal dominant polycystic kidney disease (ADPKD) with deformed lobulated kidneys.
-
Sonogram shows enlargement of both kidneys, diffuse increased echogenicity, and loss of corticomedullary differentiation. These findings are compatible with a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
-
Excretory urogram shows minimal bilateral tubular changes caused by a mild form of autosomal recessive polycystic kidney disease (ARPKD).
-
Excretory urogram shows enlarged kidneys with bilateral distortion of the collecting system (spider-legs configuration). These findings are compatible with a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
-
Excretory urogram shows the typical mottled (spongelike) contrast pattern in autosomal recessive polycystic kidney disease (ARPKD).
-
Excretory urogram shows the typical mottled (spongelike) contrast pattern in autosomal recessive polycystic kidney disease (ARPKD).
-
Excretory urogram shows the typical mottled (spongelike) contrast enhancement pattern in autosomal recessive polycystic kidney disease (ARPKD).
-
CT shows bilaterally smooth enlarged kidneys. These findings are compatible with a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
-
CT shows bilateral renal and liver cysts with enlarged kidneys and remaining renal cortex enhancement compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
-
T2-weighted MRI shows bilateral smooth enlarged kidneys with a hyperintense, linear, radial pattern in the cortex and medulla, compatible with autosomal recessive kidney disease.
-
T1- and T2-weighted MRIs demonstrating a superior left kidney cyst with high T1 and intermediary T2 signal compatible with a bleeding cyst in autosomal dominant polycystic kidney disease (ADPKD).
-
T1- and T2-weighted MRIs demonstrating bilateral renal and liver cysts compatible with autosomal dominant polycystic kidney disease (ADPKD).
