Congenital glucose–galactose malabsorption: A descriptive study of clinical characteristics and outcome from Western Saudi Arabia

Saadah, Omar I.; Alghamdi, Sharifa; Sindi, Haifa Hasan; Alhunaitti, Huda; Bin-Taleb, Yagoub; Alhussaini, Bakr H.

doi:10.1016/j.ajg.2014.01.004

Cited by 25 publications

(25 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In both infants, the osmotic diarrhea was so profuse that it was mistaken for polyuria, highlighting the importance of objective urine output collection with catheters in infants. Mistaking profuse osmotic diarrhea for polyuria is not unique to the 2 cases presented here [4, 7, 9]. A high index of suspicion of a malabsorption disorder such as GGM should arise if the losses are found to be gastrointestinal.…”

Section: Discussionmentioning

confidence: 99%

Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3

et al. 2017

View full text Add to dashboard Cite

Background/Aims: Glucose-galactose malabsorption (GGM) is a rare and potentially fatal disorder. The autosomal recessive mutation of the SGLT1 gene interferes with the active glucose transport in the gut resulting in osmotic diarrhea and failure to thrive (FTT). Two nonrelated infants with GGM are presented as well as a novel mutation in SGLT1. Case Presentation: The first case consulted for FTT and presented with hypercalcemia and hypercalciuria. His mother had self-medicated with high doses of vitamin D. The second case consulted for macroscopic hematuria, and presented with dehydration and secondary acute kidney injury. In both cases, the profuse diarrhea, initially mistaken for polyuria, promptly resolved after the introduction of glucose-galactose-free milk. Investigations showed bilateral nephrocalcinosis and high levels of 1,25(OH)₂D₃ in both patients. We hypothesize that the upregulation of epithelial calcium channels (TRPV6) and 1,25(OH)₂D₃ are possible factors involved in the pathophysiology of nephrocalcinosis sometimes seen in GGM. Furthermore, a novel intronic SGLT1 mutation (c.207+2dup) is described. Conclusion: These 2 cases demonstrate that a malabsorption disorder such as GGM can present with nephrocalcinosis and/or hypercalcemia, with increased 1,25(OH)₂D₃ levels in infants. Prompt recognition of GGM is sometimes difficult but crucial.

show abstract

Section: Discussionmentioning

confidence: 99%

Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3

et al. 2017

View full text Add to dashboard Cite

show abstract

“…This co‐transporter is present in both intestinal cells and proximal renal tubules . Few hundred cases were described in the literature …”

Section: Introductionmentioning

confidence: 99%

“…1 Few hundred cases were described in the literature. 2 Early presentation with diarrhea and dehydration in the neonatal period is characteristic. 2 Once the disease is suspected, the diagnosis can be further supported by cessation of symptoms with fasting state and the presence of acidic stools.…”

Section: Introductionmentioning

confidence: 99%

“…2 Early presentation with diarrhea and dehydration in the neonatal period is characteristic. 2 Once the disease is suspected, the diagnosis can be further supported by cessation of symptoms with fasting state and the presence of acidic stools. Hypernatremia and renal impairment are more commonly seen with GGM than with other forms of congenital diarrhea.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Congenital glucose‐galactose malabsorption: A case report with a novel SLC5A1 mutation

Al-lawama

Albaramki

Al-Tamimi

et al. 2018

Clinical Case Reports

View full text Add to dashboard Cite

show abstract

“…Nephrocalcinosis (NC) represents calcification of the renal parenchyma (1). The main etiological agents of this condition are metabolic diseases such as hypoparathyroidism and hyperparathyroidism, apparent mineralocorticoid excess syndrome, idiopathic infantile hypercalcemia, glycogen storage disease type 1, glucose-galactose malabsorption, and taking certain drugs (2)(3)(4)(5)(6)(7)(8). Furthermore, renal disorders including idiopathic hypercalciuria, renal hypophosphatemia, renal tubular acidosis, Dent disease, familial hypomagnesemia with hypercalciuri, and nephrocalcinosis, hypocitraturia, cystinuria, primary hyperoxaluria and renal hypouricemia (9), vitamin D excess medication and prematurity; sometimes it is incidentally and radiographically found in individuals with normal kidney function (10)(11)(12).…”

Section: Introductionmentioning

confidence: 99%

Long-Term Effect of Nephrocalcinosis on Renal Function and Body Growth Index in Children: A Retrospective Single Center Study

et al. 2018

View full text Add to dashboard Cite

Background: Nephrocalcinosis to the presence of calcium salts within renal tissue. Infants and children are more likely to have an underlying etiology for nephrocalcinosis including inherited errors of metabolism, anatomic abnormalities of the urinary tract, renal disorders, vitamin D excess, medication and prematurity. The body growth and renal function have rarely been investigated concerning children with nephrocalcinosis (NC). Objectives: This study aimed to evaluate effect of NC on growth index and kidney function of patients according to its cause. Methods: This study was conducted on twenty-eight now 2-27-year-old patients with NC who were admitted or referred to Loghman Hakim Hospital within 2006 and 2013. The patients' data were recorded in terms of age, gender, NC etiology, clinical presentation, GFR, standard deviation scores of height and weight, and follow-up period. Data was imported to the SPSS software version 18 and analyzed using statistical tests. Results: Mean age of the participants was 2.5 ± 2.2, ranging from 0.1 to 9.7 years. Fourteen (47%) patients were male. Mean follow-up time period was 7.1 ± 5.2, ranging from 1.0 to 20.9 years. The most common clinical presentations leading to the NC diagnosis were urinary tract infection (25%) and growth retardation among 18% of the patients. The NC was rooted in distal renal tubular acidosis (dRTA) regarding 34.5% of the subjects, idiopathic hypercalciuria (IHC) in terms of 17.2% participants, Bartter syndrome in 10.3% and other different factors in 31.1% of the participants and cause of the NC was unknown in 6.9% of the subjects. Mean glomerular filtration rate (GFR) was 75.6 ± 29.1 in presentation and 105.7 ± 21.9 ml/min/1.73m 2 in follow-up (P < 0.001). There was no significant decrease in height and weight SDS from the first to last observation. Also, a significant increase of BMI was observed from first to last observation. Conclusions: Findings revealed that nephrocalcinosis has no significant effect on growth index and glomerular filtration within a long term and its impact depends on the underlying causes.

show abstract

Congenital glucose–galactose malabsorption: A descriptive study of clinical characteristics and outcome from Western Saudi Arabia

Cited by 25 publications

References 17 publications

Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)<sub>2</sub>D<sub>3</sub>

Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)<sub>2</sub>D<sub>3</sub>

Congenital glucose‐galactose malabsorption: A case report with a novel SLC5A1 mutation

Long-Term Effect of Nephrocalcinosis on Renal Function and Body Growth Index in Children: A Retrospective Single Center Study

Contact Info

Product

Resources

About