Genetic, Hereditary, and Congenital Conditions
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Shaarav A. Ghose Department of Medicine, Northeast Ohio Medical University, Rootstown, Ohio

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Sidharth Kumar Sethi Pediatric Nephrology, Medanta–The Medicity, Gurgaon, India

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  • 1.

    Bianic F, Guelfucci F, Robin L, Martre C, Game D, Bockenhauer D: Epidemiology of distal renal tubular acidosis: A study using linked UK primary care and hospital data. Nephron 145: 486495, 2021 PubMed

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  • 2.

    Popp B, Ekici AB, Knaup KX, Schneider K, Uebe S, Park J, et al.: Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study. Eur J Hum Genet 30: 14131422, 2022 PubMed

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  • 3.

    Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D: Inherited tubulopathies of the kidney: Insights from genetics. Clin J Am Soc Nephrol 16: 620630, 2021 PubMed

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  • 4.

    Kleta R, Bockenhauer D: Salt-losing tubulopathies in children: What’s new, what’s controversial? J Am Soc Nephrol 29: 727739, 2018 PubMed

  • 5.

    Palmer BF, Kelepouris E, Clegg DJ: Renal tubular acidosis and management strategies: A narrative review. Adv Ther 38: 949968, 2021 PubMed

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    Palmer BF, Clegg DJ: Hyperchloremic normal gap metabolic acidosis. Minerva Endocrinol 44: 363377, 2019 PubMed

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    Bagga A, Sinha A: Renal tubular acidosis. Indian J Pediatr 87: 733744, 2020 PubMed

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    Wesson DE, Mathur V, Tangri N, Stasiv Y, Parsell D, Li E, et al.: Long-term safety and efficacy of veverimer in patients with metabolic acidosis in chronic kidney disease: A multicentre, randomised, blinded, placebo-controlled, 40-week extension. Lancet 394: 396406, 2019 PubMed

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  • 9.

    Foreman JW: Fanconi syndrome. Pediatr Clin North Am 66: 159167, 2019 PubMed

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    Chaudhry HS, Anilkumar AC: Wilson disease, 2023. Available at: http://www.ncbi.nlm.nih.gov/books/NBK441990/. Accessed January 29, 2024

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  • 11.

    Soares RB, Bhat N: Dent disease type 1: A diagnostic dilemma and review. Cureus 14: e23910, 2022 PubMed

  • 12.

    Keefe P, Bokhari SRA: Fanconi syndrome, 2023. Available at: http://www.ncbi.nlm.nih.gov/books/NBK534872/. Accessed January 15, 2024

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  • 13.

    Bokhari SRA, Zulfiqar H, Mansur A: Bartter syndrome, 2023. Available at: http://www.ncbi.nlm.nih.gov/books/NBK442019/. Accessed January 12, 2024

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  • 14.

    Mrad FCC, Soares SBM, de Menezes Silva LAW, Dos Anjos Menezes PV, Simões-E-Silva AC: Bartter’s syndrome: Clinical findings, genetic causes and therapeutic approach. World J Pediatr 17: 3139, 2021 PubMed

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  • 15.

    Song W, Hu Y, Zhao L, Zhang J, Zhang Y, Wen J: Molecular complexity analysis of the diagnosis of Gitelman syndrome in China. Open Life Sci 18: 20220634, 2023 PubMed

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  • 16.

    Parmar MS, Muppidi V, Bashir K: Gitelman syndrome, 2023. Available at: http://www.ncbi.nlm.nih.gov/books/NBK459304/. Accessed January 13, 2024

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  • 17.

    Afzal M, Kathuria P: Familial hypocalciuric hypercalcemia, 2023. Available at: http://www.ncbi.nlm.nih.gov/books/NBK459190/. Accessed January 16, 2024

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  • 18.

    Sadacharan D, Mahadevan S, Rao SS, Kumar AP, Swathi S, Kumar S, et al.: Neonatal severe primary hyperparathyroidism: A series of four cases and their long-term management in India. Indian J Endocrinol Metab 24: 196201, 2020 PubMed

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  • 19.

    Teleanu RI, Sarman MA, Epure DA, Matei M, Roşca I, Roza E: Autosomal dominant hypocalcemia type 1 and neonatal focal seizures. Children (Basel) 10: 1011, 2023 PubMed

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  • 20.

    Lenherr-Taube N, Young EJ, Furman M, Elia Y, Assor E, Chitayat D, et al.: Mild idiopathic infantile hypercalcemia: 1. Biochemical and genetic findings. J Clin Endocrinol Metab 106: 29152937, 2021 PubMed

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  • 21.

    Charoenngam N, Nasr A, Shirvani A, Holick MF: Hereditary metabolic bone diseases: A review of pathogenesis, diagnosis and management. Genes (Basel) 13: 1880, 2022 PubMed

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  • 22.

    Fukumoto S: FGF23-related hypophosphatemic rickets/osteomalacia: Diagnosis and new treatment. J Mol Endocrinol 66: R57R65, 2021 PubMed

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    Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, et al.: Clinical spectrum of hereditary hypophosphatemic rickets with hypercalciuria (HHRH). J Bone Miner Res 37: 15801591, 2022 PubMed

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  • 24.

    Holbrook L, Brady R: McCune-Albright syndrome, 2023. Available at: http://www.ncbi.nlm.nih.gov/books/NBK537092/. Accessed January 16, 2024

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  • 25.

    Bennati G, Cirino M, Benericetti G, Maximova N, Zanier M, Pigato F, et al.: Compounded effervescent magnesium for familial hypomagnesemia: A case report. Pharmaceuticals (Basel) 16: 785, 2023 PubMed

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  • 26.

    Han Y, Zhao Y, Wang H, Huo L: Case report: Novel TRPM6 mutations cause hereditary hypomagnesemia with secondary hypocalcemia in a Chinese family and a literature review. Front Pediatr 10: 912524, 2022 PubMed

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  • 27.

    Claverie-Martin F, Perdomo-Ramirez A, Garcia-Nieto V: Hereditary kidney diseases associated with hypomagnesemia. Kidney Res Clin Pract 40: 512526, 2021 PubMed

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  • 28.

    Tseng MH, Yang SS, Sung CC, Ding JJ, Hsu YJ, Chu SM, et al.: Novel CNNM2 mutation responsible for autosomal-dominant hypomagnesemia with seizure. Front Genet 13: 875013, 2022 PubMed

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  • 29.

    Konrad M, Schlingmann KP: Inherited disorders of renal hypomagnesaemia. Nephrol Dial Transplant 29[Suppl 4]: iv63iv71, 2014 PubMed

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    Kołbuc M, Leßmeier L, Salamon-Słowińska D, Małecka I, Pawlaczyk K, Walkowiak J, et al.: Hypomagnesemia is underestimated in children with HNF1B mutations. Pediatr Nephrol 35: 18771886, 2020 PubMed

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  • 31.

    Kavanagh C, Uy NS: Nephrogenic diabetes insipidus. Pediatr Clin North Am 66: 227234, 2019 PubMed

  • 32.

    Angelousi A, Alexandraki KI, Mytareli C, Grossman AB, Kaltsas G: New developments and concepts in the diagnosis and management of diabetes insipidus (AVP-deficiency and resistance). J Neuroendocrinol 35: e13233, 2023 PubMed

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  • 33.

    Duicu C, Pitea AM, Săsăran OM, Cozea I, Man L, Bănescu C: Nephrogenic diabetes insipidus in children (review). Exp Ther Med 22: 746, 2021 PubMed

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    Tetti M, Monticone S, Burrello J, Matarazzo P, Veglio F, Pasini B, et al.: Liddle syndrome: Review of the literature and description of a new case. Int J Mol Sci 19: 812, 2018 PubMed

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  • 35.

    Enslow BT, Stockand JD, Berman JM: Liddle’s syndrome mechanisms, diagnosis and management. Integr Blood Press Control 12: 1322, 2019 PubMed

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    Mubarik A, Anastasopoulou C, Riahi S, Aeddula NR: Liddle syndrome, 2023. Available at: http://www.ncbi.nlm.nih.gov/books/NBK536911/. Accessed December 22, 2023

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  • 37.

    Adachi M, Tajima T, Muroya K: Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1. CEN Case Rep 9: 133137, 2020 PubMed

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  • 38.

    Fujioka K, Nakasone R, Nishida K, Ashina M, Sato I, Nozu K: Neonatal Pseudohypoaldosteronism Type-1 in Japan. J Clin Med 11: 5135, 2022 PubMed

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    Nanda PM, Sharma R, Jain V: Successful management of systemic pseudohypoaldosteronism type 1 in an infant. Indian Pediatr 60: 149150, 2023 PubMed

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    Peces R, Peces C, Espinosa L, Mena R, Blanco C, Tenorio-Castaño J, et al.: A Spanish family with Gordon syndrome due to a variant in the acidic motif of WNK1. Genes (Basel) 14: 1878, 2023 PubMed

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    Mabillard H, Sayer JA: The molecular genetics of Gordon syndrome. Genes (Basel) 10: 986, 2019 PubMed

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    Suzumoto Y, Columbano V, Gervasi L, Giunta R, Mattina T, Trimarchi G, et al.: A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations. Intractable Rare Dis Res 10: 95101, 2021 PubMed

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  • 43.

    Guo W, Ji P, Xie Y: Genetic diagnosis and treatment of hereditary renal tubular disease with hypokalemia and alkalosis. J Nephrol 36: 575591, 2023 PubMed

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    Li S, Yang Y, Huang L, Kong M, Yang Z: A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature. Mol Med Rep 19: 43644376, 2019 PubMed

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  • 45.

    Van Lerberghe R, Mahieu E, Vanuytsel J, Vanhaute K, Vanfraechem C, Claeys L: Familial renal glucosuria presenting as paroxysmal glucosuria and hypercalciuria due to a novel SLC5A2 heterozygous variant. Eur J Case Rep Intern Med 10: 004157, 2023 PubMed

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    Dorum S, Erdoğan H, Köksoy AY, Topak A, Görükmez Ö: Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants. Pediatr Int (Roma) 64: e14948, 2022 PubMed

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  • 47.

    Hatano M, Udagawa T, Kanamori T, Sutani A, Mori T, Sohara E, et al.: A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria. Hum Genome Var 9: 42, 2022 PubMed

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  • 48.

    Hoppe B, Martin-Higueras C: Improving treatment options for primary hyperoxaluria. Drugs 82: 10771094, 2022 PubMed

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    Demoulin N, Aydin S, Gillion V, Morelle J, Jadoul M: Pathophysiology and management of hyperoxaluria and oxalate nephropathy: A review. Am J Kidney Dis 79: 717727, 2022 PubMed

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    Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, et al.: Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nat Rev Nephrol 19: 194211, 2023 PubMed

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  • 52.

    Topaloglu R: Nephropathic cystinosis: An update on genetic conditioning. Pediatr Nephrol 36: 13471352, 2021 PubMed

  • 53.

    Elmonem MA, Veys KRP, Prencipe G: Nephropathic cystinosis: Pathogenic roles of inflammation and potential for new therapies. Cells 11: 190, 2022 PubMed

  • 54.

    Esposito P, Caputo C, Repetto M, Somaschini A, Pietro B, Colomba P, et al.: Diagnosing Fabry nephropathy: The challenge of multiple kidney disease. BMC Nephrol 24: 344, 2023 PubMed

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  • 55.

    Chimenz R, Chirico V, Cuppari C, Ceravolo G, Concolino D, Monardo P, et al.: Fabry disease and kidney involvement: starting from childhood to understand the future. Pediatr Nephrol 37: 95103, 2022 PubMed

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  • 56.

    Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A, et al.: The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 30: 6878, 2007 PubMed

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    Pisani A, Visciano B, Imbriaco M, Di Nuzzi A, Mancini A, Marchetiello C, et al.: The kidney in Fabry’s disease. Clin Genet 86: 301309, 2014 PubMed

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    Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, et al.: Mutant α-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: Biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. Biochem J 406: 285295, 2007 PubMed

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