Intestinal hypomagnesemia in an Iranian patient with a novel TRPM6 variant: a case report and review of the literature.

Autor: Kamali F; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran., Jamee M; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ, UK.; Renal Services, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, NE7 7DN, UK.; NIHR Newcastle Biomedical Research Centre, Newcastle University, Newcastle Upon Tyne, NE45PL, Tyne and Wear, UK., Sadeghi-Bojd S; Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran., Golchehre Z; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Dehghanzad R; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Keramatipour M; Watson Genetic Laboratory, North Kargar Street, Tehran, Iran. keramatipour@sina.tums.ac.ir.; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. keramatipour@sina.tums.ac.ir., Mohkam M; Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Jazyk: angličtina
Zdroj: CEN case reports [CEN Case Rep] 2023 Nov; Vol. 12 (4), pp. 413-418. Date of Electronic Publication: 2023 Mar 26.
DOI: 10.1007/s13730-023-00785-8
Abstrakt: TRPM6 is predominantly expressed in the kidney and colon and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis and plays important roles in epithelial magnesium transport and the active magnesium absorption. In this study, we present a 70-day-old Iranian female patient from consanguineous parents with hypomagnesemia and secondary hypocalcemia. She presented with seizures 19 days after birth and refractory watery non-bloody diarrhea. She consequently had failure to thrive. Other features included hypotonia, wide anterior fontanel, ventriculomegaly, and pseudotumor cerebri following administration of nalidixic acid. She had severe hypomagnesemia and hypocalcemia which were treated with magnesium and calcium supplementation. Despite initial unstable response to supplemental magnesium, she eventually improved and the diarrhea discontinued. The patient was discharged by magnesium and calcium therapy. At the last follow-up at age 2.5 years, the patient remained well without any recurrence or complication. Genetic testing by whole-exome sequencing revealed a novel homozygous frameshift insertion-deletion (indel) variant in exon 26 of the TRPM6 gene, c.3693-3699del GCAAGAG ins CTGCTGTTGACATCTGCT, p.L1231Ffs*36. Segregation analysis revealed the TRPM6 heterozygous variant in both parents. Patients with biallelic TRPM6 pathogenic variants typically exhibit hypomagnesemia with secondary hypocalcemia and present with neurologic manifestations including seizures. In some patients, this is also complicated by chronic diarrhea and failure to thrive. Long-term complications are rare and most of the patients show a good prognosis with supplemental magnesium therapy.
(© 2023. The Author(s) under exclusive licence to The Japan Society of Nephrology.)
Databáze: MEDLINE
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