Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV

Plumb, Lucy; Hoff, William van’t; Kleta, Robert; Reid, C. P. P.; Ashton, Emma; Samuels, Martin; Böckenhauer, Detlef

doi:10.1016/s0140-6736(16)00087-8

Cited by 19 publications

(15 citation statements)

References 7 publications

(4 reference statements)

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“…Several dated human and animal studies have shown compensatory hypoventilation in metabolic alkalosis 12,13,28‐30 . This in line with more recent reports of infants with apnea caused by severe metabolic alkalosis due to (pseudo‐) Bartter syndrome, peritoneal dialysis with bicarbonate containing solutions, and consumption of gripe water, containing an high concentration of sodium bicarbonate by a previously healthy infant 31‐34 . In infants with postoperative apnea, it was unclear whether the infants presented with metabolic alkalosis or not and whether this may have led to postoperative apnea 22,23 .…”

Section: Discussionsupporting

confidence: 54%

Perioperative apnea in infants with hypertrophic pyloric stenosis: A systematic review

Bunder

Wijk

Woensel

et al. 2020

Pediatric Anesthesia

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Background Infantile hypertrophic pyloric stenosis (IHPS) leads to excessive vomiting and metabolic alkalosis, which may subsequently cause apnea. Although it is generally assumed that metabolic derangements should be corrected prior to surgery to prevent apnea, the exact incidence of perioperative apneas in infants with IHPS and the association with metabolic alkalosis are unknown. We performed this systematic review to assess the incidence of apnea in infants with IHPS and to verify the possible association between apnea and metabolic alkalosis. Methods We searched MEDLINE, Embase, and Cochrane library to identify studies regarding infants with metabolic alkalosis, respiratory problems, and hypertrophic pyloric stenosis. We conducted a descriptive synthesis of the findings of the included studies. Results Thirteen studies were included for analysis. Six studies described preoperative apnea, three studies described postoperative apnea, and four studies described both. All studies were of low quality or had other research questions. We found an incidence of 27% of preoperative and 0.2%‐16% of postoperative apnea, respectively. None of the studies examined the association between apnea and metabolic alkalosis in infants with IHPS. Conclusions Infants with IHPS may have a risk to develop perioperative apnea. However, the incidence rates should be interpreted with caution because of the low quality and quantity of the studies. Therefore, further studies are required to determine the incidence of perioperative apnea in infants with IHPS. The precise underlying mechanism of apnea in these infants is still unknown, and the role of metabolic alkalosis should be further evaluated.

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Section: Discussionsupporting

confidence: 54%

Perioperative apnea in infants with hypertrophic pyloric stenosis: A systematic review

Bunder

Wijk

Woensel

et al. 2020

Pediatric Anesthesia

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“…The clinical consequences reflect the role of the affected transport protein: it can be isolated loss of specific solutes, which may even be of clinical benefit, considering, for instance, isolated renal glycosuria owing to mutations in the sodium-glucose cotransporter type 2. But they can also be devastating if global homeostasis is affected, impairing even the most basic physiologic functions, such as respiration (2).…”

Section: Introductionmentioning

confidence: 99%

Inherited Tubulopathies of the Kidney

Downie

Lopez-Garcia

Kleta

et al. 2020

CJASN

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The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly or indirectly involved in the tubular transport of water and solutes. Inherited tubulopathies are characterized by impaired function of one or more of these specific transport molecules. The clinical consequences can range from isolated alterations in the concentration of specific solutes in blood or urine to serious and life-threatening disorders of homeostasis. In this review, we will focus on genetic aspects of the tubulopathies and how genetic investigations and kidney physiology have crossfertilized each other and facilitated the identification of these disorders and their molecular basis. In turn, clinical investigations of genetically defined patients have shaped our understanding of kidney physiology.

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“…It is important to note that the macula densa, the site of tubuloglomerular feedback (TGF) is part of the TAL. Thus, impaired salt reabsorption in TAL leads to a Bshort-circuiting^of TGF with increased renin production, which is irrespective of volume status [9][10][11].…”

Section: Salt Reabsorption In the Talmentioning

confidence: 99%

Bartter and Gitelman syndromes: Questions of class

2019

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Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb (TAL) of the loop of Henle and/or the distal convoluted tubule (DCT). Different subtypes can be distinguished and various classifications have been proposed based on clinical symptoms and/or the underlying genetic cause. Yet, the clinical phenotype can show remarkable variability, leading to potential divergences between classifications. These problems mostly relate to uncertainties over the role of the basolateral chloride exit channel CLCNKB, expressed in both TAL and DCT and to what degree the closely related paralogue CLCNKA can compensate for the loss of CLCNKB function. Here, we review what is known about the physiology of the transport proteins involved in these disorders. We also review the various proposed classifications and explain why a gene-based classification constitutes a pragmatic solution.

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Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV

Abstract: Word count: 960

Cited by 19 publications

References 7 publications

Perioperative apnea in infants with hypertrophic pyloric stenosis: A systematic review

Perioperative apnea in infants with hypertrophic pyloric stenosis: A systematic review

Inherited Tubulopathies of the Kidney

Bartter and Gitelman syndromes: Questions of class

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