Intestinal tuberculosis (ITB) and Crohn's disease (CD) are granulomatous
disorders with similar clinical manifestations and pathological features that
are often difficult to differentiate. This study evaluated the value of
fluorescent quantitative polymerase chain reaction (FQ-PCR) for
Mycobacterium tuberculosis (MTB) in fecal samples and
biopsy specimens to differentiate ITB from CD. From June 2010 to March 2013, 86
consecutive patients (38 females and 48 males, median age 31.3 years) with
provisional diagnoses of ITB and CD were recruited for the study. The patients'
clinical, endoscopic, and histological features were monitored until the final
definite diagnoses were made. DNA was extracted from 250 mg fecal samples and
biopsy tissues from each patient. The extracted DNA was amplified using FQ-PCR
for the specific MTB sequence. A total of 29 ITB cases and 36 CD cases were
included in the analysis. Perianal disease and longitudinal ulcers were
significantly more common in the CD patients (P<0.05), whereas night sweats,
ascites, and circumferential ulcers were significantly more common in the ITB
patients (P<0.05). Fecal FQ-PCR for MTB was positive in 24 (82.8%) ITB
patients and 3 (8.3%) CD patients. Tissue PCR was positive for MTB in 16 (55.2%)
ITB patients and 2 (5.6%) CD patients. Compared with tissue FQ-PCR, fecal FQ-PCR
was more sensitive (X2=5.16, P=0.02). We conclude that FQ-PCR for MTB
on fecal and tissue samples is a valuable assay for differentiating ITB from CD,
and fecal FQ-PCR has greater sensitivity for ITB than tissue FQ-PCR.
SATB2 mutation is not detected in the parents of the subjects. This study is important to further study the clinical features of SATB2-associated syndrome and to enlarge the SATB2 mutation spectrum.
ObjectiveTo investigate the clinical and genetic characteristics of neonatal Crohn’s disease (CD), improve recognition of neonatal CD, and reduce the number of patients that are missed or misdiagnosed.MethodsA 10-day-old Chinese girl with oral ulcers was admitted to the Department of Neonatology. She later developed a rash and perianal disease, but without diarrhea and stool abnormalities. The patient and her parents underwent next-generation sequencing.ResultsThe results showed that the patient carries a compound heterozygous mutation in the interleukin-10 receptor A (IL-10RA) (NM_001558.3) gene. One heterozygous mutation was c.301 c > T, P. (Arg 101 Trp) in exon 3 of IL-10RA (a missense mutation), and the other was c. 537G > A, P. (Thr 179 =) in exon 4 of IL 10RA (a synonymous mutation). The patient’s father also carries the c.301 c > T, P. (Arg 101 Trp) heterozygous mutation in exon 3 of IL-10RA, whereas her mother carries the c.537G > A, P. (Thr 179 =) heterozygous mutation in exon 4 of IL-10RA.ConclusionsThe results show that a compound heterozygous mutation in IL-10RA is associated with neonatal CD. Oral ulcers with a rash and perianal disease may be an early symptom of neonatal CD; therefore, such patients should undergo genetic identification as soon as possible.
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