Severe Failure to Thrive in Infant

Abstract

Failure to thrive in an infant has multiple etiologies and at times, is only manifestation of underlying serious disease. Bartter syndrome is a rare disease that manifests as failure to thrive. It can be diagnosed by a careful history, physical examination, and abnormal electrolyte pattern. It can be alleviated by appropriate management, whereas failure to recognize early can be life threatening. A case of severe failure to thrive in an infant due to neonatal form of Bartter syndrome, its manifestations, management, and outcome is presented in this article.

Bartter syndrome and growth hormone deficiency: Three siblings with a novel CLCNKB mutation

“…Short stature and failure to thrive are common clinical findings in children affected with BS. Indeed, several factors can contribute to growth retardation in BS: multiple salt wasting, impairment of appetite and/or vomiting (leading to malnutrition); moreover, longitudinal growth retardation is a common sign in childhood diseases associated with hypokalemia …”

“…Short stature and growth retardation have been frequently observed in children with BS, which have been attributed to the metabolic derangement associated with multiple electrolyte unbalance . Some cases of growth hormone deficiency (GHD) have been reported in children with BS, as well as in other types of tubulopathy, such as Gitelman syndrome or Dent syndrome …”

Bartter syndrome presenting as poor weight gain and dehydration in an infant

“…Classic and neonatal Bartter syndrome have similar presenting symptoms but different presentation ages, Gitelman syndrome is found in late childhood or adolescence and has the classic hallmark finding of hypomagnesaemia, which differentiates it from classic and neonatal variants [5]. Failure to thrive in an infant has multiple etiologies and at times is the only manifestation of underlying serious diseases such as Bartter syndrome, in which the majority of patients present with failure to thrive, vomiting and constipation during the first 2 years of life [6].…”

Primary Molecular Disorders and Secondary Biological Adaptations in Bartter Syndrome

“…Chronic sodium depletion subsequently leads to a contraction of the extracellular volume. Hypotension, failure to thrive, and at the biological level, either an increased concentration of the total plasma protides or a high hematocrit are the common signs of extracellular volume contraction [19, 20]. Chronic hypovolemia results in a stimulation of the renin axis and enhances the production of angiotensin-2 that stimulates the sodium reabsorption in the principal cell of the collecting duct (Figure 3) [21].…”