Find information on thousands of medical conditions and prescription drugs.

Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children. more...

Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
Sabinas brittle hair...
Saccharopinuria
Sacral agenesis
Saethre-Chotzen syndrome
Salla disease
Salmonellosis
Sandhoff disease
Sanfilippo syndrome
Sarcoidosis
Say Meyer syndrome
Scabies
Scabiophobia
Scarlet fever
Schamberg disease...
Schistosomiasis
Schizencephaly
Schizophrenia
Schmitt Gillenwater Kelly...
Sciatica
Scimitar syndrome
Sciophobia
Scleroderma
Scrapie
Scurvy
Selachophobia
Selective mutism
Seminoma
Sensorineural hearing loss
Seplophobia
Sepsis
Septo-optic dysplasia
Serum sickness
Severe acute respiratory...
Severe combined...
Sezary syndrome
Sheehan syndrome
Shigellosis
Shingles
Shock
Short bowel syndrome
Short QT syndrome
Shprintzen syndrome
Shulman-Upshaw syndrome
Shwachman syndrome
Shwachman-Diamond syndrome
Shy-Drager syndrome
Sialidosis
Sickle-cell disease
Sickle-cell disease
Sickle-cell disease
Siderosis
Silicosis
Silver-Russell dwarfism
Sipple syndrome
Sirenomelia
Sjogren's syndrome
Sly syndrome
Smallpox
Smith-Magenis Syndrome
Sociophobia
Soft tissue sarcoma
Somniphobia
Sotos syndrome
Spasmodic dysphonia
Spasmodic torticollis
Spherocytosis
Sphingolipidosis
Spinal cord injury
Spinal muscular atrophy
Spinal shock
Spinal stenosis
Spinocerebellar ataxia
Splenic-flexure syndrome
Splenomegaly
Spondylitis
Spondyloepiphyseal...
Spondylometaphyseal...
Sporotrichosis
Squamous cell carcinoma
St. Anthony's fire
Stein-Leventhal syndrome
Stevens-Johnson syndrome
Stickler syndrome
Stiff man syndrome
Still's disease
Stomach cancer
Stomatitis
Strabismus
Strep throat
Strongyloidiasis
Strumpell-lorrain disease
Sturge-Weber syndrome
Subacute sclerosing...
Sudden infant death syndrome
Sugarman syndrome
Sweet syndrome
Swimmer's ear
Swyer syndrome
Sydenham's chorea
Syncope
Syndactyly
Syndrome X
Synovial osteochondromatosis
Synovial sarcoma
Synovitis
Syphilis
Syringomas
Syringomyelia
Systemic carnitine...
Systemic lupus erythematosus
Systemic mastocytosis
Systemic sclerosis
T
U
V
W
X
Y
Z
Medicines

Clinical Features

This syndrome shows a wide range of abnormalities and symptoms. The main characteristics of the syndrome are exocrine pancreatic dysfunction, haematologic abnormalities and growth retardation. Neutropenia may be intermittent or persistent and is the most common haematological finding. Low neutrophil counts leave patients at risk of developing severe recurrent infections that may be life-threatening. Anemia (low red blood cell counts) and thrombocytopenia (low platelet counts) may also occur. Bone marrow is typically hypocellular, with maturation arrest in the myeloid lineages that give rise to neutrophils, macrophages, platelets and red blood cells. Patients may also develop progressive marrow failure or transform to acute myelogenous leukemia. Pancreatic exocrine insufficiency arises due to a lack of acinar cells that produce digestive enzymes. These are extensively depleted and replaced by fat. A lack of pancreatic digestive enzymes leaves patients unable to digest and absorb fat. However, pancreatic status may improve with age in some patients. More than 50% of patients are below the third percentile for height, and short stature appears to be unrelated to nutritional status. Other skeletal abnormalities include metaphyseal dysostosis (45% of patients), thoracic dystrophy (rib cage abnormalities in 46% of patients), and costochondral thickening (shortened ribs with flared ends in 32% of patients). Skeletal problems are one of the most variable components of SDS, with 50% affected siblings from the same family discordant for clinical presentation or type of abnormality. Despite this, a careful review of radiographs from 15 patients indicated that all of them had at least one skeletal anomaly, though many were sub-clinical.

Diagnosis

Initially, the clinical presentation of SDS may appear similar to cystic fibrosis. However, CF can be excluded with a normal sweat chloride test result. The variation, intermittent nature, and potential for long-term improvement of some clinical features make this syndrome difficult to diagnose. SDS may present with either malabsorption, or hematological problems. Rarely, SDS may present with skeletal defects, including severe rib cage abnormalities that lead to difficulty in breathing. Diagnosis is generally based on evidence of exocrine pancreatic dysfunction and neutropenia. Skeletal abnormalities and short stature are characteristics that can be used to support the diagnosis. The gene responsible for the disease has been identified and genetic testing is now available. Though useful in diagnostics, a genetic test does not surmount the need for careful clinical assessment and monitoring of all patients.

Read more at Wikipedia.org


[List your site here Free!]



p53 protein overexpression in Shwachman-Diamond syndrome / In reply
To the Editor.-We read with great interest the paper of Drs Elghetany and Alter in the April 2002 issue of the ARCHIVES.1 Shwachman-Diamond syndrome (SDS) ...
Emergence of an unusual bone marrow precursor B-cell population in fatal Shwachman-Diamond syndrome
The Shwachman-Diamond syndrome (SDS) is a rare congenital disorder for which inheritance by an autosomal recessive trait has been suggested. Shwachman-Diamond ...
p53 Protein overexpression in bone marrow biopsies of patients with Shachman-Diamond syndrome has a prevelence similar to that of patients with refractory
Context.-Shwachman-Diamond syndrome (SDS) is a rare inherited disorder characterized by pancreatic insufficiency, neutropenia, and in some patients, ...
Aplastic anemia
Aplastic anemia is a disorder in which the bone marrow greatly decreases or stops production of blood cells.
Evaluating the child with chronic diarrhea
The occurrence of chronic diarrhea in infants younger than three months suggests disaccharidase deficiency, cow's milk or soy protein intolerance, cystic ...
Genetic and congenital defect conditions that mimic child abuse
Several medical conditions have been reported to mimic the physical manifestations of child abuse and neglect (CAN). These conditions include genetic, ...
Altus Completes Study on Lead Product for Malabsorption
Business Editors/Health/Medical Writers BIOWIRE2K CAMBRIDGE, Mass.--(BUSINESS WIRE)--May 14, 2003 Altus Biologics Inc., a developer of novel orally ...

Home Contact Resources Exchange Links ebay