Pancreatic insufficiency and neutropenia syndrome in children was first reported by Shwachman in 1964, hence it is also known as Shwachman syndrome or Shwachman-Diamond syndrome. This syndrome is characterized by congenital pancreatic insufficiency accompanied by hypoplasia of the bone marrow hematopoietic system. It typically manifests in infants aged 2 to 10 months, with a familial predisposition and is likely inherited in an autosomal recessive manner.

bubble_chart Etiology

The pathological features of this disease are pancreatic dysplasia, primarily involving hypoplasia of the exocrine tissue, manifested by sparse acinar cells, while the islets develop normally. The total volume of pancreatic secretion and the HCO₃^- content are normal. It is also accompanied by dysplasia of the myeloid granulocyte series in the bone marrow, occasionally with megakaryocyte deficiency, and may present with metaphyseal chondrodysplasia of the bones, with focal calcification defects in the epiphyses.

bubble_chart Clinical Manifestations

It is primarily caused by insufficient exocrine function, such as a reduction or deficiency of amylase, protease, and lipase, manifesting as loss of appetite, nausea, vomiting, diarrhea, porridge-like stools, steatorrhea, or celiac disease. Extraintestinal manifestations may include constitutional growth and nutritional deficiencies, such as short stature, deformities, and developmental disorders of long bone epiphyses. Due to abnormal bone marrow development, it may present with a decrease in neutrophils, reduced resistance, and susceptibility to complications such as respiratory infections, otitis media, and sinusitis. It may also manifest as anemia and a decrease in platelets.

The blood test may reveal a decrease in neutrophils, often <1.5×10⁹/L, as well as reductions in hemoglobin and platelets. Bone marrow examination shows hypoplasia and stagnation of blood cell maturation. Stool analysis exhibits steatorrhea-like changes. Generation and transformation tests may indicate reductions in various pancreatic digestive enzymes. When this disease is complicated by pulmonary infection, it can easily be confused with pancreatic cystic fibrosis, but the normal sweat gland electrolytes and chloride levels in this disease serve as distinguishing features.

bubble_chart Treatment Measures

In terms of treatment, active administration of various pancreatic enzymes as replacement therapy, such as trypsin, pepsin, lipase, and chymotrypsin, is necessary to maintain normal development. Attention should be paid to preventing and controlling infections. For deformities caused by poor skeletal development, plastic surgery may be attempted.