Navigation Links
Newborns With Respiratory Distress Potentially Have Rare Genetic Disease

Newborns with respiratory distress should be evaluated for primary ciliary dyskinesia, a rare genetic disease that has features similar// to cystic fibrosis.

According to Thomas Ferkol, M.D., Washington University School of Medicine in St. Louis, reports that about 80 percent of patients with primary ciliary dyskinesia (PCD) have a history of newborn respiratory distress.

"The diagnosis of PCD requires a high index of suspicion, but PCD must be considered in any term newborn who develops respiratory distress or persistent hypoxemia (low oxygen in the blood), especially those who have reversed internal organs or an affected sibling," says Ferkol, director of the Division of Pediatric Allergy and Pulmonary Medicine at Washington University School of Medicine and St. Louis Children's Hospital.

Reviewing published reports, Ferkol and Margaret Leigh, M.D., professor of pediatrics at the University of North Carolina at Chapel Hill (UNC), found that neonatal respiratory distress was a common clinical symptom of PCD, a chronic airway disease that affects about 1 in 15,000 children. Their findings appeared in the December issue of Seminars in Perinatology.

Also known as immotile cilia syndrome, ciliary aplasia or Kartagener Syndrome, PCD causes persistent wheezing and cough in children and is associated with recurrent or persistent sinus and ear infections. Half of patients with PCD have reversed internal organs, called situs inversus, and males are usually infertile.

In PCD patients, the cilia, tiny hairs that move mucus, bacteria and particulates out of the respiratory tract, including the lungs, middle ear and paranasal sinuses, have abnormal or no motion. As a result, the airways become obstructed and infected, which incites a destructive inflammatory process in those organs. Cilia are also present in the female reproductive system, central nervous system and gut.

"The tricky thing about this diseas e is that many of the clinical symptoms are very similar to other more common conditions, such as asthma, allergy or cystic fibrosis," Ferkol says. "Physicians often fail to consider PCD, in part because we don't have a great diagnostic test for the disease."

Ferkol indicates that several clinical features of PCD mirror those found in the more-common cystic fibrosis, including chronic sinus and lung disease as well as male infertility. However, chronic ear disease and neonatal respiratory distress are relatively uncommon in cystic fibrosis and should prompt the caregiver to consider PCD.

"Once children with PCD are past the newborn period, the signs and symptoms that typically bring them to medical attention are chronic ear disease, hearing loss and a runny nose that persists despite seasonal changes or the use of antibiotics and antihistamines," Ferkol says. "But as patients age, the lung manifestations become more evident. Also, infertility becomes a greater issue in adulthood."

Because definitive testing is not always readily available, patients with PCD are often diagnosed late. In addition, treatment of PCD in the community is highly variable, largely because the necessary clinical studies have not been performed.

Ferkol, also associate professor of pediatrics and of cell biology and physiology and director of the Cystic Fibrosis Center at Washington University School of Medicine, is leading the Washington University research team that is part of a national consortium investigating the genetic causes of PCD. The Genetic Diseases of Mucociliary Clearance Consortium, based at UNC, is part of the National Institutes of Health Rare Diseases Clinical Research Network.

The consortium aims to improve diagnosis and treatment of PCD as well as to better define its origin and how it progresses.

"We want to identify as many PCD patients as we can to help us understand the genetics, pathophysiology and clinical spectrum of this disease so we can devise better, more effective treatment strategies," Ferkol says.

Ultimately, members of the consortium will invite patients with PCD to enroll in a long-term study where they will be monitored and be eligible to participate in clinical trials of potential treatments, Ferkol says.

Source-Newswise
'"/>




Related medicine news :

1. Screening Newborns Questioned
2. Cooling Can Reduce The Risk Of Brain Damage In Oxygen Deprived Newborns
3. Newborns Know how to make eye contact
4. New Portable Helmet Scanner To Examine Newborns
5. Newborns Affected By Antidepressant Intake Of Mothers
6. Use Of Alcohol During Pregnancy Affects Newborns
7. Exposure To Solvents May Harm Pregnant Women And Newborns
8. Pre-gestational Diabetes in Mothers enhances the Risk of Hypocalcaemia in Newborns
9. Newborns Cerebral Palsy Risk Increased By Alzheimers Gene
10. Harmful Effects Of Glucocorticoids On Newborns Owing To Prenatal Exposure
11. PFOA and PFOS Detected in Newborns
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/26/2016)... ... June 26, 2016 , ... PawPaws brand pet ... product that was developed to enhance the health of felines. The formula is all-natural ... two main herbs in the PawPaws Cat Kidney Support Supplement Soft Chews ...
(Date:6/25/2016)... ... June 25, 2016 , ... ... and applications at AcademyHealth’s Annual Research Meeting June 26-28, 2016, at the Hynes ... important health care topics including advance care planning, healthcare costs and patient and ...
(Date:6/25/2016)... , ... June 25, 2016 , ... "With 30 hand-drawn ... specific project," said Christina Austin - CEO of Pixel Film Studios. , ProHand ... all within Final Cut Pro X . Simply select a ProHand generator and ...
(Date:6/25/2016)... ... June 25, 2016 , ... ... recover from injury. Recently, he has implemented orthobiologic procedures as a method for ... is one of the first doctors to perform the treatment. Orthobiologics are substances ...
(Date:6/24/2016)... ... June 24, 2016 , ... A recent article published June 14 ... The article goes on to state that individuals are now more comfortable seeking to ... operations such as calf and cheek reduction. The Los Angeles area medical group, Beverly ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... CLEMENTE, Calif. , June 24, 2016  American Respiratory Labs ... company, is now able to perform sophisticated lung assessments in patients, ... Technologies , Inc. Patients are no longer limited ... ndd,s EasyOne PRO ® , ARL patients like Jeanne R. of ... done in the comfort of her own home. ...
(Date:6/24/2016)... NAMUR , Belgium , ...  (NYSE MKT: VNRX), today announced the appointment of ... Board of Directors as a Non-Executive Director, effective ... the Company,s Audit, Compensation and Nominations and Governance ... Board, Dr. Futcher will provide independent expertise and ...
(Date:6/23/2016)... Any dentist who has made an implant supported ... Many of them do not even offer this as a ... laboratory costs involved. And those who ARE able to offer ... high cost that the majority of today,s patients would not ... Zadeh , founder of Dental Evolutions Inc. and inventor of ...
Breaking Medicine Technology: