OBJECTIVE: To analyze the causes of misdiagnosis in patients with familial nasal bleeding and to improve the level of diagnosis and treatment. METHOD: The clinical characteristics of 7 families with nose blood were analyzed retrospectively and 2 typical cases were reported, including their treatment and misdiagnosis in consulting, out-patient and in-patient. RESULT: Typical case 1 was misdiagnosed and mistreated for 42 years, misdiagnosed as blood disease so that the patient was biopsied in bone marrow, misdiagnosed as endometriosis so that the patient was performed uterus resection. Typical case 2 was misdiagnosed and mistreated for 17 years, misdiagnosed as upper digestive tract hemorrhage so that the patient was performed endoscopic sleeve ligation, misdiagnosed as inferior turbinate hemangioma so that the patient was performed nasal endoscopic surgery. CONCLUSION Neglect of family history and the typical signs are the causes of misdiagnosis. So asking about the family history and checking for the typical signs in patients with nose blood can avoid misdiagnosis.
Diagnostic Errors ; Endoscopy ; Epistaxis ; diagnosis ; Female ; Humans ; Nasal Surgical Procedures ; Retrospective Studies ; Turbinates

Objective To measure the nasal nitric oxide (NNO) and fractional exhaled nitric oxide (FENO) in healthy people and patients with allergic rhinitis (AR),and to discuss the clinical significance of the results.Methods Ninety-six healthy volunteers and 51 patients with moderate-severe persistent AR,but without asthma,were enrolled.NNO and FENO concentrations were measured noninvasively by using of NIOX MINO (Aerocrine AB,Solna,Sweden).SPSS 13.0 software was used to analyze the data.Results The concentration of NNO in healthy people was 245.0 [189.8 ;331.3] ppb (median [25th percentile ; 75th percentile],the followings were same as).The concentration of FENO was 14.0 [10.0; 18.0] ppb.The concentration of NNO in patients with AR was 304.0 [179.5 ; 397.5] ppb.The concentration of FENO was 21.0[16.0; 40.5] ppb.The concentration of NNO in the AR patients was higher than that in the healthy persons,but the difference did not reach statistical significance (Z =1.349,P =0.177).On the other hand,FENO concentrations were significantly increased in patients compared with concentrations in healthy persons (Z =5.555,P =0.000).Conclusions FENO concentrations of patients with moderate-severe persistent AR are increased significantly even though the patients do not have typical symptoms of asthma.This finding suggests that AR patients should be treated actively in order to prevent asthma from developing in them.

OBJECTIVE: To study the early gene diagnosis of hereditary hemorrhagic telangiectasia (HHT) induced severe nosebleed. METHOD: Clinical features of 23 family members in two HHT pedigrees were examined. Genomic DNA was extracted from peripheral blood samples. PCR amplification was conducted to screen ENG and ACVRL-1 genes with their specific primers. Direct sequencing was performed to detect the mutation. Mutation analysis was carried out to evaluate its significance. RESULT: A heterozygous c. 263A > G mutation was identified in exon 3 of ACVRL-1 in 6 out of 11 members in NMG-1 pedigree. In GD-2 pedigree, 5 of 11 members carried c. 199C > G mutation. Mutation detection rate was 100% in subjects with nosebleed history and 25% in family members without epistaxis. CONCLUSION Gene diagnosis characterized by high sensitivity and specificity is of great practi-cal significance and early genetic screening should be a clinical routine test for HHT induced severe nosebleed.
Activin Receptors, Type II ; genetics ; Adolescent ; Adult ; Antigens, CD ; genetics ; DNA Mutational Analysis ; Endoglin ; Epistaxis ; diagnosis ; etiology ; genetics ; Exons ; Female ; Genetic Testing ; Humans ; Male ; Middle Aged ; Pedigree ; Receptors, Cell Surface ; genetics ; Telangiectasia, Hereditary Hemorrhagic ; complications ; diagnosis ; genetics ; Young Adult

Objective To analyze the clinical characteristics of primary ciliary dyskinesia(PCD) so as to improve the diagnostic level of this rarely seen disease.Methods Ten patients with PCD were retrospectively reviewed,the medical history,symptoms,signs,lung CT or chest X-ray,rhinosinus CT scan,nasal nitric oxide (NO) levels,nasal ciliary ultrastructure,DNAH5 and DNAH11 genetic mutation,as well as treatment outcome were analyzed.Results All 10 patients had recurrent chronic sinusitis,otitis media,bronchitis/bronchiectasis since childhood.Nine cases with translocation of heart and big vessels were diagnosed as Kartagener syndrome.One woman was suffering from barrenness and one man sterility after marriage for long time without birth control.Nasal NO levels were significantly lower in 2 patients with PCD but it was almost normal in one patient.Ciliary ultrastructure investigated by transmission electron microscope were almost normal in 4 cases without missing of inner or outer dynein arms.Two cases taking exome capture sequencing showed that mutations happened in DNAH5 and DNAH11.Five subjects underwenting sanger sequencing on 6 common exon fragments of DNAH5 and DNAH11 did not show any abnormality.Ten cases took medication therapy,while 5 patients once underwent functional endoscope sinus surgery.All of the 10 patients had improvement of their symptoms and signs after treatment.Conclusions The PCD is so rare in clinic that it is easily misdiagnosed.Clinical characteristics,nasal NO levels,ciliary ultrastructure and genetic testing are significant for clinical diagnosis.