RESUMEN
INTRODUCTION: Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis, with severe ocular impairment secondary to claudin-19 mutation, is a rare recessive autossomic disorder. Its spectrum includes renal Mg2+ wasting, medullary nephrocalcinosis and progressive chronic renal failure in young people. OBJECTIVE: To report a case of kidney transplantation father to daughter in a familial occurrence of severe bilateral nephrocalcinosis associated with ocular impairment in a non-consanguineous Brazilian family, in which two daughters had nephrocalcinosis and severe retinopathy. METHODS: The index case, a 19 years-old female, had long-lasting past medical history of recurrent urinary tract infections, and the abdominal X-ray revealed bilateral multiple renal calcifications as well as ureteral lithiasis, and she was under haemodialysis. She had the diagnosis of retinitis pigmentosa in the early neonatal period. The other daughter (13 years-old) had also nephrocalcinosis with preserved kidney function, retinopathy with severe visual impairment, and in addition, she exhibited hypomagnesaemia = 0.5 mg/dL and hypercalciuria. The other family members (mother, father and son) had no clinical disease manifestation. Mutation analysis at claudin-19 revealed two heterozygous missense mutations (P28L and G20D) in both affected daughters. The other family members exhibited mutant monoallelic status. In despite of that, the index case underwent intrafamilial living donor kidney transplantation (father). CONCLUSION: In conclusion, the disease was characterized by an autosomal recessive compound heterozygous status and, after five years of donation the renal graft function remained stable without recurrence of metabolic disturbances or nephrocalcinosis. Besides, donor single kidney Mg2+ and Ca2+ homeostasis associated to monoallelic status did not affect the safety and the usual living donor post-transplant clinical course.
Asunto(s)
Claudinas/genética , Enfermedades Hereditarias del Ojo/genética , Enfermedades Hereditarias del Ojo/cirugía , Trasplante de Riñón , Mutación , Defectos Congénitos del Transporte Tubular Renal/genética , Defectos Congénitos del Transporte Tubular Renal/cirugía , Familia , Femenino , Humanos , Factores de Tiempo , Donantes de Tejidos , Adulto JovenRESUMEN
Recently, the world is facing an escalate in the incidence of chronic kidney disease (CKD). Databases containing information about patients in end stage renal disease (ESRD), especially in the United States, were the sources of initial information about it. Brazil has the third largest population on dialysis in the world, and there are about 680 dialysis centers, spread across all units of the federation in the present, providing treatment to an estimated population of almost 90,000 patients. Cutaneous involvement in the chronic renal failure is characterized by a number of manifestations, which may be related to three processes: the primary renal disease, the uremic state, or the therapeutic measures used in their handling. The skin changes in these two classes of patients, dialysis and transplant recipients, have been the subject of several studies. n recent years, however, great progress has been achieved in these two therapeutic modalities, which may have changed not only the type of the dermatologic disorders associated with these two conditions, but also their intensity or frequency. This article aims to yield an update as to the topic skin diseases in hemodialysis and kidney transplant patients.