Phospho‐soda–induced Symptomatic Hypocalcemia in a Patient With Cystic Fibrosis and Vitamin D Malabsorption

Kuehn, Devon; May, Joseph W.; Bauer, Andrew J.

doi:10.1097/mpg.0b013e31811f3561

Cited by 5 publications

(3 citation statements)

References 22 publications

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“…Hypoparathyroidism is diagnosed in the presence of hypocalcemia with a concurrent low or inappropriately normal PTH level. [18][19][20] While our patient had inappropriately normal PTH levels, it should be noted that the labs were not interrogated for the presence of interfering antibodies (such as heterophile and human antianimal antibodies). Therefore, there is a possibility that the normal PTH level may be due to an unrecognized interfering antibody falsely elevating the PTH levels, and the true PTH levels were, in fact, quite low.…”

Section: Therapeutic Advances In Rare Diseasementioning

confidence: 88%

A novel case of homozygous PAX1 mutation associated with hypoparathyroidism

Hamel

Kumar

Heidenreich

et al. 2023

Therapeutic Advances in Rare Disease

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The PAX1 gene plays an important role in the development of the parathyroid glands and the thymus. Mouse knockout models of PAX1, PAX3, and PAX9 have been found to have hypoplastic or absent parathyroid glands. To our knowledge, there are no reported cases of PAX1-associated hypoparathyroidism in humans. We present a case of hypoparathyroidism in a 23-month-old boy with a homozygous pathogenic variant in the PAX1 gene ( PAX1 NM_006192.5 c.463_465del variant), predicted to cause an in-frame deletion of asparagine at position 155 (p.Asn155del) of the PAX1 protein. The hypoparathyroidism was unmasked after the patient developed significant hypocalcemia while receiving GoLYTELY (polyethylene glycol 3350, sodium sulfate anhydrous, sodium bicarbonate, sodium chloride, potassium chloride) for bowel cleanout. The patient had mild and asymptomatic hypocalcemia prior to hospitalization. The patient was noted to have inappropriately normal parathyroid hormone (PTH) level at the time of documented hypocalcemia thereby suggesting a diagnosis of hypoparathyroidism. Plain language summary The first human case of hypoparathyroidism associated with a rare genetic disorder: a case report of PAX1 gene mutation The paired box ( PAX) gene family is important for embryo development. One subfamily, PAX1, is necessary for development of the spinal column, thymus (important for the immune system development), and parathyroid (helps regulate the amount of calcium in the body). We present the case of a 23-month-old boy with known PAX1 gene mutation who came in with episodes of vomiting and poor growth. His presentation was thought to be most likely related to constipation. He was started on bowel cleanout medication and intravenous fluids. However, his calcium that had been mildly low subsequently dropped to very low levels. The level of parathyroid hormone (which helps regulate calcium levels) was inappropriately normal, meaning that his body was unable to make more, and was consistent with hypoparathyroidism. He was treated with calcium supplements and vitamin D and calcium levels normalized. He continues to be on calcium and vitamin D and calcium levels have remained stable. Doctors should keep this complication in mind when treating patients with PAX1 gene mutation.

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Section: Therapeutic Advances In Rare Diseasementioning

confidence: 88%

A novel case of homozygous PAX1 mutation associated with hypoparathyroidism

Hamel

Kumar

Heidenreich

et al. 2023

Therapeutic Advances in Rare Disease

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“…Vitamin D deficiency may also facilitate the development of hyperphosphatemia and hypocalcemia. Kuehn et al (19), reported a patient with cyctic fibrosis and vitamin D deficiency, who developed hyperphosphatemia and hypocalcemia after NP enema use for bowel preparation. Therefore, serum electrolytes and renal function tests should be checked in every pediatric patient before NP use and we recommend to measure vitamin D levels as well, in patients with signs of severe malnutrition or with findings of rickets.…”

Section: Discussionmentioning

confidence: 99%

Çocuklarda İki Bağırsak Hazırlık İlacının Etkinlik ve Kullanılabilirliğinin Karşılaştırılması: Polietilen Glikol ve Sodyum Fosfat

Aydemir

Barış

Yurttaş

et al. 2020

Osmangazi̇ Journal of Medicine

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Adequate bowel cleansing with a good patient tolerability is important for high-quality and safe colonoscopy. We aimed to compare the efficacy and tolerability of an osmotic agent, polyethylene glycol (PEG) and a less frequently used stimulant agent, sodium phosphate (NP) for pediatric patients. We analyzed the records of pediatric patients who underwent colonoscopy and used either PEG or NP for bowel cleansing between January 2016 and December 2019. The patient tolerability of bowel preparation was assessed using a patient questionnaire that consisted of acceptance and adverse events, recording abdominal pain, nausea, vomiting, dizziness and severity of these symptoms. The quality of bowel preparation was assessed according to the Ottawa scale, including cleanliness and fluid quantity. The colonoscopic video records were retrospectively and blindly evaluated for Ottawa scale. There were a total of 145 patients (65 boys, 44.8%) with a mean age of 12.3±4.2 years. PEG was used in 93 patients (64.1%), while NP was used in 52 patients (35.9%). The mean age of the patients was significantly lower in PEG group (11.2±4.6 years) when compared to NP group (14.2±2.7 years) (p<0.0001). The patients who used PEG had significantly better tolerance without any complaints when compared to the patients who used NP (49/93 patients (52.7%) vs 14/52 patients (26.9%), respectively, p=0.003). Regarding the severity of symptoms in patients who had adverse events, the NP group had significantly more frequent moderate-severe side effects when compared to PEG group (15/52 patients (28.8%) vs 15/93 patients (16.1%), respectively, p=0.014). One of the children in NP group had severe hyperphosphatemia, which required fluid resuscitation. Regarding the efficacy of the preparations, 39/93 (41.9%) of the patients in PEG group had required wash and suctioning in any segments of the colon, this ratio was significantly lower in NP group (12/52 (23%)), (p=0.029). The Ottawa bowel preparation quality score in right colon and total Ottawa scale rating was significantly better in NP group when compared to PEG group (p=0.009 and 0.034, respectively). The Ottawa scores in mid and rectosigmoid colons were not significantly different between two groups. As conclusion, NP is more efficient in bowel cleansing when compared to PEG. But PEG had less frequent moderate-severe side effects compared to NP. Additionally, NP should be carefully used in selected cases where other bowel cleansing methods cannot be used, because of the severe side effects like hyperphosphatemia in children.

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“…To the Editor : Kuehn et al (1) described a serious adverse event in a 23‐year‐old patient after receiving 90 mL of Phospho‐soda in 1 evening followed by 2 Fleet enemas within 8 hours after the second dose of Phospho‐soda. The authors failed to note that the dose of Phospho‐soda was not given according to manufacturer's instructions and that the closely scheduled doses, in combination with 2 Fleet enemas, were an extreme overdose of sodium phosphate.…”

mentioning

confidence: 99%

Re: Phospho‐Soda–Induced Symptomatic Hypocalcemia in a Patient With Cystic Fibrosis and Vitamin D Malabsorption

Caswell¹

2010

J. pediatr. gastroenterol. nutr.

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Phospho‐soda–induced Symptomatic Hypocalcemia in a Patient With Cystic Fibrosis and Vitamin D Malabsorption

Cited by 5 publications

References 22 publications

A novel case of homozygous PAX1 mutation associated with hypoparathyroidism

A novel case of homozygous PAX1 mutation associated with hypoparathyroidism

Çocuklarda İki Bağırsak Hazırlık İlacının Etkinlik ve Kullanılabilirliğinin Karşılaştırılması: Polietilen Glikol ve Sodyum Fosfat

Re: Phospho‐Soda–Induced Symptomatic Hypocalcemia in a Patient With Cystic Fibrosis and Vitamin D Malabsorption

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