Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.
OBJECTIVE
With the use of clinical data from a large international cohort, we evaluated and compared affected siblings and isolated cases.


METHODS
Data from 116 families were collected, and patients conforming to our predetermined diagnostic criteria were analyzed. Phenotypic manifestations of affected siblings and singletons were compared with the use of t tests, Wilcoxon scores, and chi2 analysis.


RESULTS
Eighty-eight patients (33 female, 55 male; median age 5.20 years) fulfilled our predetermined diagnostic criteria for Shwachman syndrome; 63 patients were isolated cases, and 25 affected siblings were from 12 multiplex families. Steatorrhea was present in 86% (57 of 66), and 91% (78 of 86) displayed a low serum trypsinogen concentration. Patients older than 4 years more often had pancreatic sufficiency. Neutropenia occurred in 98%, anemia in 42%, and thrombocytopenia in 34%. Myelodysplasia or cytogenetic abnormalities were reported in 7 patients. Short stature with normal nutritional status was a prominent feature.


CONCLUSIONS
Clinical features among patients with Shwachman syndrome varied between patients and with age. Similarities in phenotype between isolated cases and affected sibling sets support the hypothesis that Shwachman syndrome is a single disease entity.
Ginzberg
H
H
Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.
Shin
J
J
Ellis
L
L
Morrison
J
J
Ip
W
W
Dror
Y
Y
Freedman
M
M
Heitlinger
L A
LA
Belt
M A
MA
Corey
M
M
Rommens
J M
JM
Durie
P R
PR
D001424:Bacterial Infections / Q000453:epidemiology; D001848:Bone Diseases, Developmental / Q000453:epidemiology / Q000235:genetics; D002446:Celiac Disease / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D010188:Exocrine Pancreatic Insufficiency / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000453:epidemiology / Q000235:genetics; D006402:Hematologic Diseases / Q000453:epidemiology / Q000235:genetics*; D006529:Hepatomegaly / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009503:Neutropenia / Q000453:epidemiology / Q000235:genetics; D009679:Nuclear Family; D010641:Phenotype; D018709:Statistics, Nonparametric; D013577:Syndrome; D014362:Trypsinogen / Q000097:blood
D014362:Trypsinogen