Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report

Türkoğlu, Kıvanç; Orhan, Kaan; Demir, Pınar; Karabulut, Barış; Can-Karabulut, Deniz C.

doi:10.1016/j.tripleo.2010.05.054

Cited by 2 publications

(4 citation statements)

References 33 publications

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“…We present a case of PCD with an unusual association with type IIIb jejunal atresia and a novel mutation. Upon reviewing the previously reported cases in the past 12 years, a slightly higher prevalence of PCD among males was noted [ 1 , 2 , 5 - 7 , 11 , 12 ]. Our patient was male, which is in line with the previously reported cases in terms of sex.…”

Section: Discussionmentioning

confidence: 99%

“…PCD can be associated with other diseases such as central giant cell granuloma, extrahepatic biliary atresia, or duodenal atresia [ 2 , 12 , 19 ]. However, our patient had PCD with jejunal atresia.…”

Section: Discussionmentioning

confidence: 99%

“…However, our patient had PCD with jejunal atresia. Upon extensive literature search, we found that no study had reported this association before (Table 1 ) [ 1 , 2 , 5 - 7 , 11 , 12 , 18 , 20 ].…”

Section: Discussionmentioning

confidence: 99%

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A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child

Isa¹,

Alkharsi²,

Busehail³

et al. 2022

Cureus

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Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder. It is caused by a defect in the action of the cilia lining multiple organs of the body, including the lungs, the sinuses, hepatobiliary and reproductive organs. In general, the estimated prevalence of this condition is one in 15,000-20,000 individuals. It is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus, which occurs in 50% of the cases. It can be associated with other diseases too. Genetic studies can aid in confirming the diagnosis of this condition. A high degree of suspicion about PCD among pediatricians, neonatologists, otorhinolaryngologists, and pulmonologists is essential to make early referrals of patients before they develop irreversible lung damage. Hence, early diagnosis and appropriate treatment are very important. Multicenter collaborations might improve the quality of treatment and patient outcomes. Here, we discuss a case of PCD with a unique association with type IIIb jejunal atresia, and developmental delay secondary to vitamin B12 deficiency. Moreover, the patient was found to have a novel DNAH9 gene mutation in a compound heterozygous state. This is the first case of this rare disease to be reported from Bahrain. This case report is also associated with an extensive literature review.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child

Isa¹,

Alkharsi²,

Busehail³

et al. 2022

Cureus

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“…The most common complications include congenital heart disease, hydrocephalus, cleft palate, bilateral cervical ribs, anal atresia, urethral crack and duplex kidney. In addition, PCD/KS may be complicated by pulmonary heart disease,10 acute mesangial proliferative glomerulonephritis,11 renal cell adenocarcinoma,12 central giant cell granuloma,13 mediastinal tumor,14 amyotrophic lateral sclerosis,15 pulmonary hypertension/pulmonary capillary hemangioma,16 diffuse bronchiolitis,17 rheumatoid arthritis,18 congenital glaucoma/cataracts, nearsightedness, membranous pupil, olfactory defects, serous mucinous otitis,19 hearing loss, conductive deafness, nephrogenic bone defects,20 pulmonary infundibular stenosis, chronic kidney failure,21 reproductive tract abnormalities, testicular seminoma,22 mental retardation, schizophrenia,2324 neonatal respiratory distress252627 and so on. Ciliary dysfunction in the oviduct or endometrium may lead to an increasing risk of ectopic pregnancy or infertility in women 32829.…”

Section: Incidence and Clinical Manifestations Of Primary Ciliary Dysmentioning

confidence: 99%

Management of primary ciliary dyskinesia/Kartagener′s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism

Sha

Ding

2014

Asian J Androl

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Kartagener's syndrome (KS) is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia (PCD). As it is accompanied by many complications, PCD/KS severely affects the patient's quality of life. Therapeutic approaches for PCD/KS aim to enhance prevention, facilitate rapid definitive diagnosis, avoid misdiagnosis, maintain active treatment, control infection and postpone the development of lesions. In male patients, sperm flagella may show impairment in or complete absence of the ability to swing, which ultimately results in male infertility. Assisted reproductive technology will certainly benefit such patients. For PCD/KS patients with completely immotile sperm, intracytoplasmic sperm injection may be very important and even indispensable. Considering the number of PCD/KS susceptibility genes and mutations that are being identified, more extensive genetic screening is indispensable in patients with these diseases. Moreover, further studies into the potential molecular mechanisms of these diseases are required. In this review, we summarize the available information on various aspects of this disease in order to delineate the therapeutic objectives more clearly, and clarify the efficacy of assisted reproductive technology as a means of treatment for patients with PCD/KS-associated infertility.

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Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report

Cited by 2 publications

References 33 publications

A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child

A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child

Management of primary ciliary dyskinesia/Kartagener′s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism

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