Autosomal dominant hypocalcaemia: A novel mutation.

1. Cheek DB, Perry JW. A salt wasting syndrome in infancy. Arch Dis Child. 1958;33:252--6. 2. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991;73:936--44. 3. Bonny O, Rossier BC. Disturbances of Na/K balance: pseudohypoaldosteronism revisited. J Am Soc Nephrol. 2002;13:2399--414. 4. Silva N, Costa M, Silva A, Sá C, Martins S, Antunes A, et al. A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene. Endocrinol Nutr. 2013;60:33--6. 5. Kerem E, Bistritzer T, Hanukoglu A, Hofmann T, Zhou Z, Bennett W, et al. Pulmonary epithelial sodium-cannel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med. 1999;341:156--62. 6. Martin JM, Calduch L, Monteagudo C, Alonso V, Garcia L, Jorda E. Clinico-pathological analysis of the cutaneous lesions of a patient with type I pseudohypoaldosteronism. J Eur Acad Dermatol Venereol. 2005;19:377--9. 7. Hanukoglu A, Hanukoglu I. Clinical improvement in patients with autosomal recessive pseudohypoaldosteronism and the necessity for salt supplementation. Clin Exp Nephrol. 2010;14: 518--9. 8. Adachi M, Asakura Y, Muroya K, Tajima T, Fujieda K, Kuribayashi E, et al. Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism. Clin Exp Nephrol. 2010;14:228--32. 9. Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, TenenbaumRakover Y, Yurdakök M, et al. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Clin Endocrinol (Oxf). 2005;62:547--53.