Pediatric Polycystic Kidney Disease Clinical Presentation

Updated: Aug 27, 2021
  • Author: Priya Verghese, MD, MPH; Chief Editor: Craig B Langman, MD  more...
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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. [13] 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