History:

A 28-year-old gravida 2 para 0 ab 1 woman has a routine ultrasound at 26 weeks gestation. Very little amniotic fluid is noted, and it is difficult to visualize the fetus. On repeat ultrasound a week later, the same findings are noted, but the kidneys are now visualized and appear to be enlarged and cystic bilaterally. The baby is born prematurely at 30 weeks gestation by spontaneous vaginal delivery and weighs 850 gm. Apgar scores are 1 at 1 minute, 1 at 5 minutes, and 1 at 10 minutes (heart rate only). The baby dies at 1 hour of age.

Image 3.1:

The gross appearance of the face is shown here. What do you notice?

There are prominent infraorbital creases and a flattened nose. The feet also show varus deformities.

Image 3.2:

The hands are shown here. What is wrong?

The skin is very loose (like a glove).

Image 3.3:

The chest cavity is opened here. What is abnormal?

The lungs are very small (hypoplastic). The heart is normal in size.

Image 3.4:

The abdominal cavity is shown here. What are the large bilateral structures?

These are bilaterally enlarged kidneys.

Image 3.5:

What organ is represented here? What is the abnormality?

This is a kidney with polycystic change; glomeruli are non-dilated but the collecting ducts are markedly dilated and are arranged along the radial axis of the kidney.

Image 3.6:

This is the same organ with a related condition. How does it differ from image 3.5?

Again, polycystic changes are present, but there is dense fibrous tissue with a few large cysts and tubules, scattered clusters of smaller cysts, and occasional islands of cartilage. There are abortive attempts to form glomeruli.

Questions:

1. Is this early or late onset intrauterine growth retardation?

This is early onset intrauterine growth retardation.

2. How do you explain the oligohydramnios?

The renal abnormality precluded fetal urine production, leading to oligohydramnios.

3. Why were the Apgar scores low?

The oligohydramnios led to pulmonary hypoplasia, which precluded adequate ventilation and oxygenation.

4. How do you explain the pathophysiology of the gross and microscopic findings?

This is a deformation sequence in which an abnormality (polycystic kidney) leads to oligohydramnios which leads to the morphologic features (loose skin, flattened nose, varus deformities) and pulmonary hypoplasia.

5. Explain the genetic basis for the conditions in images 3.5 and 3.6 for the purpose of counselling the parents.

The appearance of the kidney in 3.5 is consistent with recessive polycystic kidney disease (RPKD), as the non-glomeruluar cysts are small and radially arranged and both kidneys are symmetrically enlarged. This is an autosomal recessive condition with a recurrence risk of 25%.

The appearance of the kidney in 3.6 is consistent with a multicystic, dysplastic kidney because the cysts are of variable size along with fibrosis and cartilagenous islands. The inheritance here is not Mendelian and there is little risk for recurrence in further pregnancies.



6. What is the prognosis and how do you help the parents and family to deal with it?

The prognosis for recessive polycystic kidney disease is often poor. In some cases, end-of-life care starts at birth. For adult patients with cancer, the concept of end-of-life care, including institutions such as hospice, is well-accepted. However, hospice care has encountered roadblocks when applied to other disease categories: COPD, CHF, and ESRD for example, which perhaps have a bit less predictable prognosis, so doctors don't know when the last six months are going to be, and don't refer to hospice. For pediatric patients and neonatal patients, there is a tendency to be in denial, and dealing realistically with death is an important part of practice. The NICU is often the unit in a large hospital with the most deaths, and a 'hospice bed' may be worthwhile. The main thing is to have a single room, large enough so an entire family can gather in peace, cry in privacy, and hold the baby as it dies without disturbing other families.