Evaluation of salt supplementation in CF infants

Coates, A.J.; Crofton, Patricia M.; Marshall, Tom

doi:10.1016/j.jcf.2009.08.006

Cited by 45 publications

(45 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…these patients because it is independent of urine flow. (12,13) Other laboratory findings include metabolic acidosis, and alkaline fecal pH. Clinical findings in CSD and major differential diagnoses are compiled in Table 1.…”

Section: Congenital Sodium Diarrhea: Clinical Presentationmentioning

confidence: 99%

Congenital Sodium Diarrhea

Janecke

Heinz‐Erian

Müller

2016

J. pediatr. gastroenterol. nutr.

View full text Add to dashboard Cite

Congenital diarrheal disorders (CDDs) represent a group of challenging clinical conditions for pediatricians because of the severity of the presentation and the broad range of possible differential diagnoses. CDDs arise from alterations in the transport of nutrients and electrolytes across the intestinal mucosa, from enterocyte and enteroendocrine cell differentiation and/or polarization defects, and from the modulation of the intestinal immune response. Advances were made recently in deciphering the etiology and pathophysiology of one of these disorders, congenital sodium diarrhea (CSD). CSD refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. A syndromic form of CSD features choanal and intestinal atresias as well as recurrent corneal erosions. Small bowel histology frequently detects an epithelial "tufting" dysplasia. It is autosomal recessively inherited, and caused by SPINT2 mutations. The nonsyndromic form of CSD can be caused by dominant activating mutations in GUCY2C, encoding intestinal receptor guanylate cyclase C (GC-C), and by autosomal recessive SLC9A3 loss-of-function mutations. SLC9A3 encodes Na/H antiporter 3, the major intestinal brush border Na/H exchanger, and a downstream target of GC-C. A number of patients with GUCY2C and SLC9A3 mutations developed inflammatory bowel disease. Both the number of recognized CDD forms as well as the number of underlying disease genes are gradually increasing. Knowledge of these CDD genes enables noninvasive, next-generation gene panel-based testing to facilitate an early diagnosis in CDD. Primary Na/H antiporter 3 and GC-C malfunction is implicated as a predisposition for inflammatory bowel disease in subset of patients.

show abstract

Section: Congenital Sodium Diarrhea: Clinical Presentationmentioning

confidence: 99%

Congenital Sodium Diarrhea

Janecke

Heinz‐Erian

Müller

2016

J. pediatr. gastroenterol. nutr.

View full text Add to dashboard Cite

show abstract

“…Salt depletion due to inadequate intake combined with excessive losses (up to 80 mEq Na/day) is also a common finding, and chronic depletion may result in failure to thrive due to hyponatremic alkalosis [53] and has been associated with irreversible somatic and brain stunting in animal models [54]. Standard infant diets may not contain sufficient salt for maintenance of body stores [55], but small daily supplements of 1/8 tsp Na/day are likely satisfactory [56] and can be supplied by commercially available salt packets [57]. Zinc deficiency [58], due to decreased dietary absorption and poor reabsorption, may also result in growth stunting.…”

Section: Nutritional Benefits Of Cf Nbs and Treatment Of Gastrointestmentioning

confidence: 99%

Newborn Screening for Cystic Fibrosis

Sharp

Rock

2008

Clinic Rev Allerg Immunol

View full text Add to dashboard Cite

Newborn screening (NBS) for cystic fibrosis (CF) has evolved considerably from its beginnings. We review the early history of NBS in the USA and the evolution of CF NBS from its conception in observational studies, to the development of mass-screening methodology in the 1970s, and to its early applications in the USA and other countries. We review the development of current CF NBS algorithms, particularly the development of those used in the Wisconsin randomized controlled trial, and discuss the comparative utility of different algorithms. We also discuss the identified nutritional and respiratory benefits of CF NBS, discuss treatment strategies for newborns identified with CF, and also discuss opportunities for slowing the progression of this disease.

show abstract

“…Det er også vist at barn med cystisk fibrose kan ha normalt serum-natrium, men allikevel aktivering av renin-angiotensin-aldosteron-systemet som uttrykk for natriumunderskudd og hypovolemi (7). Natrium er i barnets første leveår en viktig vekstfaktor, og hyponatremi er sannsynligvis et sent tegn på natriumunderskudd hos barn med cystisk fibrose.…”

Section: Endokrinologiskunclassified