scholarly journals A Roadmap to the Brittle Bones of Cystic Fibrosis

2011 ◽  
Vol 2011 ◽  
pp. 1-10 ◽  
Author(s):  
Ashwini P. Gore ◽  
Soon Ho Kwon ◽  
Antine E. Stenbit
Keyword(s):  
Cystic Fibrosis ◽  
Lung Transplantation ◽  
Bone Disease ◽  
Bone Health ◽  
Autosomal Recessive ◽  
Multidisciplinary Approach ◽  
Early Recognition ◽  
Autosomal Recessive Disorder ◽  
Fatal Disease ◽  
Brittle Bones

Cystic fibrosis (CF) is an autosomal recessive disorder which despite advances in medical care continues to be a life-limiting and often fatal disease. With increase in life expectancy of the CF population, bone disease has emerged as a common complication. Unlike the osteoporosis seen in postmenopausal population, bone disease in CF begins at a young age and is associated with significant morbidity due to fractures, kyphosis, increased pain, and decreased lung function. The maintenance of bone health is essential for the CF population during their lives to prevent pain and fractures but also as they approach lung transplantation since severe bone disease can lead to exclusion from lung transplantation. Early recognition, prevention, and treatment are key to maintaining optimal bone health in CF patients and often require a multidisciplinary approach. This article will review the pathophysiology, current clinical practice guidelines, and potential future therapies for treating CF-related bone disease.

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (1) ◽  
pp. 135-137
Author(s):  
Renata Hubner Frainer ◽  
Luciana Boff de Abreu ◽  
Giselle Martins Pinto ◽  
André Vicente Esteves de Carvalho ◽  
Luana Pizarro Meneghello
Keyword(s):  
Macular Degeneration ◽  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Recognition ◽  
Association Studies ◽  
Autosomal Recessive Disorder ◽  
Macular Dystrophy ◽  
Rare Autosomal Recessive Disorder ◽  
Ocular Defect ◽  
Eye Examination

Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unk nown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduc tion. There are few reports in the literature with this association. Studies show that the defective gene is on the chro mosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.

scholarly journals LUNG TRANSPLANTATION IN CYSTIC FIBROSIS PATIENT WITH CHRONIC AIRWAYS INFECTION OF BURKHOLDERIA CEPACIA (the first case in Russian Federation)

2016 ◽  
Vol 18 (2) ◽  
pp. 110-116
Author(s):  
S. V. Gautier ◽  
S. V. Golovinsky ◽  
V. N. Poptsov ◽  
O. M. Tsiroulnikova ◽  
S. A. Krasovsky ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Transplantation ◽  
Burkholderia Cepacia ◽  
Multidisciplinary Approach ◽  
Survival Rates ◽  
Treatment Protocol ◽  
Special Group ◽  
Risk Of Death ◽  
First Case ◽  
Late Survival

Cystic fibrosis (CF) is the third most common indication for lung transplantation. The recipients with CF have shown the best early and late survival rates after surgery. The special group of CF patients consists of those, whose airways were infected with Burkholderia cepacia (B. cepacia), since the recurrence of B. cepacia infection after transplantation are coupled with extremely high risk of death. Up to the present, the question whether the patients in such conditions should be included onto the lung transplant waiting list is still unanswered. We describe a case of lung transplantation in the patient with late postoperative complication in the form of severe pyoseptic infl ammatory process caused by the recurrence of B. cepacia infection. The success of the treatment of this patient was achieved thanks to combined multidisciplinary approach. This therapeutic approach could be considered as a standard treatment protocol in case of its validation by further clinical experience.

Cystic fibrosis

2018 ◽  
Author(s):  
Rowland J. Bright-Thomas ◽  
Andrew M. Jones
Keyword(s):  
Cystic Fibrosis ◽  
Gastrointestinal Tract ◽  
Reproductive System ◽  
Autosomal Recessive ◽  
Pulmonary Infection ◽  
Autosomal Recessive Disorder ◽  
Carrier State ◽  
Male Reproductive System ◽  
Morbidity And Mortality ◽  
Basic Defect

Cystic fibrosis is the most common lethal autosomal recessive disorder in Caucasians. There is no known survival advantage of the heterozygote carrier state. Chronic progressive pulmonary infection and bronchiectasis are the major causes of morbidity and mortality. The disease affects all ductal systems where the basic defect is manifest, including the pancreas, gastrointestinal tract, sinuses, hepatobiliary system, and male reproductive system, and has significant effects on nutrition and growth.

scholarly journals Pycnodysostosis with the focus on clinical and radiographic findings

2012 ◽  
Vol 16 (2) ◽  
pp. 74-76 ◽  
Author(s):  
Benjamin Wybrand Barnard ◽  
Wim Hiddema
Keyword(s):  
Bone Turnover ◽  
Autosomal Recessive ◽  
Bone Fractures ◽  
Autosomal Recessive Disorder ◽  
Long Bone ◽  
Radiographic Findings ◽  
Rare Autosomal Recessive Disorder ◽  
Long Bone Fractures ◽  
History Of ◽  
Brittle Bones

Pycnodyostosis is a rare autosomal recessive disorder that manifests as generalised osteosclerosis of the skeleton as a result of decreased bone turnover. Patients tend to suffer from numerous fractures owing to dense, abnormally brittle bones. The syndrome has a number of characteristic clinical and radiographic signs that differentiate it from other osteosclerotic conditions. This report is of a young man with a history of long bone fractures.

Cystic fibrosis-related bone disease in young adults affected with cystic fibrosis awaiting lung transplantation for end-stage respiratory failure

2018 ◽  
Author(s):  
Elisa Cairoli ◽  
Cristina Eller-Vainicher ◽  
Alice D'Adda ◽  
Federica Briganti ◽  
Maria Pappalettera ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Young Adults ◽  
Respiratory Failure ◽  
Lung Transplantation ◽  
Bone Disease ◽  
End Stage

Anaesthesia for Adults with Cystic Fibrosis

1995 ◽  
Vol 23 (3) ◽  
pp. 332-338 ◽  
Author(s):  
A. M. Weeks ◽  
M. R. Buckland
Keyword(s):  
Cystic Fibrosis ◽  
Lung Transplantation ◽  
Young Patients ◽  
Postoperative Mortality ◽  
Autosomal Recessive Disorder ◽  
Venous Access ◽  
Anaesthetic Management ◽  
Optimal Care ◽  
Multisystem Disease ◽  
Alfred Hospital

Cystic fibrosis is an autosomal recessive disorder which affects one in 2500 live births. It is a multisystem disease and has a variety of presentations. The major clinical features affect the gastrointestinal and respiratory tracts. Severe respiratory disease, diabetes and gastroesophageal reflux are common features of concern to anaesthetists. Improved care of young patients has allowed many to survive into adulthood. Lung transplantation has significantly improved the outlook for many patients. At Alfred Hospital, 74 patients with cystic fibrosis underwent 149 procedures from January 1978 to January 1994, with a mortality of 0.6% (95% CI 0.4%-0.8%). This retrospective cohort study describes the anaesthetic management and perioperative care of these patients. Most of the anaesthetics were for procedures related to cystic fibrosis but 12% were for unrelated conditions. Cystic fibrosis related procedures include diagnostic, venous access, enteral feeding procedures, treatment of complications of cystic fibrosis and lung transplantation. Despite extremely poor respiratory function, these patients can be managed with acceptably low postoperative mortality (1%). Pre- and postoperative care must be directed towards optimal clearance of viscous respiratory secretions. Procedures need to be planned so that optimal care can be given by each member of the team caring for cystic fibrosis patients.

Nasal and Paranasal Sinus Surgery in Children with Cystic Fibrosis

1987 ◽  
Vol 96 (4) ◽  
pp. 367-372 ◽  
Author(s):  
Dennis M. Crockett ◽  
Trevor J. McGill ◽  
Gerald B. Healy ◽  
Ellen M. Friedman ◽  
Lesley J. Salkeld
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Nasal Polyposis ◽  
Autosomal Recessive Disorder ◽  
Sinus Surgery ◽  
Fibrocystic Disease ◽  
Paranasal Sinus Surgery ◽  
Extent Of Surgery ◽  
Sinus Drainage

Cystic fibrosis (mucoviscidosis; fibrocystic disease of the pancreas) is an inherited autosomal recessive disorder that results in generalized dysfunction of exocrine glands. Chronic pansinusitis with nasal polyposis occurs frequently in this disease. Polypectomy and sinus drainage procedures are often required in those cases refractory to medical therapy. Recurrence of nasal polyps following removal is common. Controversy exists regarding the timing and extent of surgery. The management of 40 children with cystic fibrosis who underwent nasal polypectomy, intranasal ethmoidectomy, and Caldwell-Luc procedures to treat extensive sinusitis and nasal polyposis forms the basis for this report. Follow-up data indicate that fewer recurrences and longer symptom-free intervals result when intranasal ethmoidectomy and Caldwell-Luc procedures are combined with polypectomy.

Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report

2021 ◽  
pp. 1-5
Author(s):  
Bhaskar Madivala Venkateshappa ◽  
Bharath Raju ◽  
Michael S. Rallo ◽  
Fareed Jumah ◽  
Sumatha Channapatna Suresh ◽  
...  
Keyword(s):  
Bone Defect ◽  
Autosomal Recessive ◽  
Surgical Intervention ◽  
Early Recognition ◽  
Autosomal Recessive Disorder ◽  
Occipital Bone ◽  
Skull Defect ◽  
Occipital Encephalocele ◽  
Knobloch Syndrome ◽  
Occipital Bone Defect

<b><i>Background:</i></b> Knobloch syndrome (KS) is a rare autosomal recessive disorder associated with multiple ocular and cranial abnormalities. Occult occipital skull defect or encephalocele should raise suspicion of this disease. It is never reported in neurosurgical literature, possibly due to a lack of clinician familiarity, leading to underdiagnosis and inadequate management. Our patient also had seizures, which is a sporadic presentation of this syndrome. <b><i>Case Description:</i></b> Here, we report a clinico-radiologic finding of a 7-year-old boy who presented with seizures, cataracts, and an occipital bone defect along with bilateral subependymal heterotopias and polymicrogyria. <b><i>Conclusions:</i></b> This case highlights the importance of consideration of this syndrome in children with a midline occipital bone defect with or without encephalocele and seizures. Early recognition of this presentation is critical for obtaining access to appropriate genetic counseling and subsequent monitoring and prevention of complications by surgical intervention.

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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