Shwachman-Diamond syndrome (SDS)

Shwachman-Diamond syndrome (SDS)

Overview

This condition is a rare inherited disorder that happens when genes mutate and primarily affect children’s pancreases, bone marrow and bones. Most of the time, those with the syndrome are diagnosed before they’re a year old, but it may be diagnosed even in young adults.

Shwachman-Diamond is a challenging disease to diagnose and treat. It causes several different symptoms and children may have one, several or all of the different symptoms. For example, one child may have pancreas and skeletal issues while another may have bone marrow issues and skeletal.

It’s also an unpredictable illness. Children’s symptoms may be mild or severe and may change over time. Most children need a team of medical specialists because Shwachman-Diamond syndrome causes many medical problems. Children with this condition will need life-long medical care, but typically have normal lifespans. However, some children and young adults may develop life-threatening blood cancers or serious blood disorders.

Is this a common illness?

That’s hard to say. Healthcare providers consider Shwachman-Diamond syndrome as a rare disease but they’re only able to estimate how many children have the syndrome. Estimates cover a wide range from 1 child in every 75,000 births. There’s a wide range of estimates because children may have mild or severe symptoms, may not have the same set of symptoms, and there isn’t a single test for the syndrome.

Can adults get Shwachman-Diamond syndrome (SDS)?

Unlike some childhood medical problems, children don’t outgrow Shwachman-Diamond syndrome. Syndrome symptoms and treatment may change over time, but children with the syndrome will need life-long medical care.

How does this condition affect my child’s body?

Shwachman-Diamond syndrome may cause several medical problems but the three most significant are:

Exocrine pancreatic insufficiency: Your child’s pancreas is an organ located in the back of your child’s belly (abdomen). It has cells that produce enzymes that help break food down into essential nutrients and fats your child’s body can absorb. These are acinar cells. In Shwachman-Diamond syndrome, your child’s pancreas doesn’t make enough enzymes to break down food, so your child doesn’t get the nutrition they need.

Impaired bone marrow function: Your child’s bone marrow produces red blood cells, white blood cells and platelets. In Shwachman-Diamond syndrome, your child’s bone marrow produces fewer normal blood cells than usual. In particular, their bone marrow doesn’t produce enough normal neutrophils. Neutrophils are white blood cells. Normally, neutrophils defend your child’s body from invaders like bacteria. Some children with Shwachman-Diamond syndrome don’t have enough normal neutrophils to fend off bacterial intruders. This condition is neutropenia. Children with neutropenia have frequent bacterial infections such as pneumonia, middle ear infections (otitis media) or skin infections (cellulitis).

Skeletal abnormalities: Children with Shwachman-Diamond syndrome may have scoliosis (curvature of their spine), unusually short arm and leg bones (chondrodysplasia) or unusually narrow, bell-shaped chests (thoracic dystrophy).

What are the complications of Shwachman-Diamond syndrome?

People with this syndrome have an increased risk of developing abnormal blood cells (myelodysplasia) that may become acute myeloid leukemia.

Symptoms and Causes

What are the symptoms of Shwachman-Diamond syndrome?

This condition affects several parts of your child’s body, but the most common symptoms affect their pancreas, bone marrow and skeletal system. People may have symptoms at birth, during infancy, as young children and a few as young adults.

Common symptoms

Children may have the following symptoms:

Failure to thrive: Failure to thrive happens when your baby doesn’t gain weight. In Shwachman-Diamond syndrome, failure to thrive may mean your baby isn’t gaining weight because they can’t digest food.

Fatigue: A baby with fatigue may be irritable or lethargic.

Large, greasy poops (bowel movements): Your baby may have unusually large poops that look greasy and smell bad.

Serious infections: Bacterial infections that keep coming back may be a symptom of Shwachman-Diamond syndrome.

Noticeable differences in their arm and leg bones: Babies’ arms and legs may be short when compared to their torsos.

What causes Shwachman-Diamond syndrome?

About 90% of all children who have Shwachman-Diamond syndrome carry a mutated version of the SBDS gene. Studies show people may inherit the mutated gene from both biological parents (autosomal recessive manner) or from one parent and a newly arising mutation. Researchers don’t know why mutations in the SBDS gene cause Shwachman-Diamond syndrome.

Diagnosis 

How do healthcare providers diagnose this condition?

Healthcare providers will do physical examinations to evaluate overall health. They’ll assess your child’s height and weight to see if they’re growing at the same rate as children their age. They may do the following tests:

Complete blood count (CBC) with differential: This test measures and counts your child’s blood cells, including all white blood cells.

Pancreas function tests: Providers may analyze samples of your child’s poop or do imaging tests such as computed tomography (CT) scans.

Blood tests to check vitamin levels.

X-rays: Providers may take X-rays to look for signs of skeletal problems, particularly in your child’s hips or lower limbs.

Genetic testing: Providers identify the genetic mutations that cause Shwachman-Diamond syndrome by analyzing take samples of your child’s blood, skin, hair or tissue to confirm your child has the syndrome.

Treatment

How do healthcare providers treat this condition?

Shwachman-Diamond syndrome may affect your child in several ways. For example, your child may not be able to digest food because of problems with their pancreas, but their bone marrow is fine. Syndrome symptoms may be mild or severe. Healthcare providers consider these differences when treating the condition.

Exocrine pancreatic insufficiency

Providers may prescribe oral pancreatic enzymes or fat-soluble vitamins to help your child’s body absorb nutrients and fats.

Impaired bone marrow function

The syndrome affects your child’s bone marrow, so their bone marrow doesn’t make enough normal neutrophils. Healthcare providers typically don’t treat bone marrow disorders unless your child develops severe complications. Treatments may include:

Blood transfusions: Blood transfusions increase blood cell levels.

Platelet transfusions: Platelet transfusions increase platelet levels, which may help with bleeding problems.

Granulocyte-colony stimulation factor (G-CSF): This treatment boosts the number of neutrophils in your child’s white blood cells.

Stem cell transplantation: Some people with Shwachman-Diamond syndrome develop blood cancer or severe blood disorders. Providers may treat these disorders with stem cell transplantations.

Skeletal abnormalities

Most of the time, providers monitor skeletal problems caused by Shwachman-Diamond syndrome. Some children may need orthopaedic surgery if they have severe problems.

What healthcare providers treat this condition?

It takes a team of specialists to treat Shwachman-Diamond syndrome. Your child’s treatment team may include:

Pediatricians: These physicians treat newborns, children, adolescents, and young adults. Your child’s pediatrician may be the first person to recommend tests to confirm your child has Shwachman-Diamond syndrome.

Endocrinologists: These physicians specialize in the endocrine system, which plays a role in your child’s growth.

Hematologists: These physicians specialize in blood disorders, including disorders that affect your child’s blood cells.

Gastroenterologists: These physicians may help treat your child’s digestive issues.

Geneticists: Shwachman-Diamond syndrome is a genetic disorder. These physicians, or genetic counselors, will arrange for the genetic analysis to confirm your child’s condition. They may also do tests on you and some of your child’s biological family members.

Orthopaedic specialists: Your child may see an orthopaedic specialist if they have skeletal issues that require surgery.

Type of Doctor Department : A pediatric hematologist/oncologist , a pediatric gastroenterologist