Seguimiento a largo plazo de un paciente con raquitismo dependiente de vitamina D tipo I / Long term follow up of a patient with type I vitamin D-dependent rickets

ResumenINTRODUCCIÓN: El raquitismo dependiente de vitamina D tipo I es una enfermedad hereditaria rara debida a una mutación en el gen CYP27B1 que codifica la enzima 1 α -hidroxilasa. Se caracteriza por la presentación de raquitismo hipocalcémico grave desde la edad de la lactancia debido al déficit de producción del metabolito activo de la vitamina D, la 1α,25-dihidroxivitamina D3.CASO CLÍNICO: Presentamos el caso de un paciente con raquitismo diagnosticado a los 11 meses de edad y el seguimiento hasta los 9 años.CONCLUSIONES: Se discute la fisiopatología de la enfermedad y la importancia del diagnóstico y tratamiento oportunos.

AbstractBACKGROUND: Vitamin D dependent rickets type I is a rare hereditary disease due to a mutation in CYP27B1 encoding the 1α-hydroxylase gene. Clinically, the condition is characterized by hypocalcemic rickets in early infancy due to a deficit in the production of the vitamin D active metabolite 1,25-dihydroxy-vitamin D3.CASE REPORT: We report the case of a patient diagnosed at 11 months with follow-up until 9 years of age.CONCLUSIONS: The pathophysiology of the disease and the relevance of early diagnosis and management are discussed.

[Long term follow up of a patient with type I vitamin D-dependent rickets]. / Seguimiento a largo plazo de un paciente con raquitismo dependiente de vitamina D tipo I.

BACKGROUND: Vitamin D dependent rickets type I is a rare hereditary disease due to a mutation in CYP27B1 encoding the 1α-hydroxylase gene. Clinically, the condition is characterized by hypocalcemic rickets in early infancy due to a deficit in the production of the vitamin D active metabolite 1,25-dihydroxy-vitamin D3. CASE REPORT: We report the case of a patient diagnosed at 11 months with follow-up until 9 years of age. CONCLUSIONS: The pathophysiology of the disease and the relevance of early diagnosis and management are discussed.

[Nutcracker syndrome: Cause of non-glomerular hematuria and massive proteinuria]. / Síndrome de cascanueces: causa de hematuria y proteinuria masiva no glomerular.

BACKGROUND: Nutcracker syndrome caused by compression of the left renal vein between the aorta and superior mesenteric artery is a non-glomerular cause of left renal bleeding and left varicocele. It has also been recognized to be an important cause of orthostatic proteinuria. CASE REPORT: A 17-year-old male was evaluated due to recurrent macroscopic hematuria. Physical examination showed left varicocele. Body mass index 16.3 kg/m2. Urinalysis demonstrated hematuria and massive proteinuria. Renal biopsy showed mild mesangial glomerular proliferation. Cystoscopy showed hematuria originating from the left ureter. Doppler ultrasonography and contrast-enhanced computed angiotomography revealed a peak velocity of the left renal vein of 20cm/s, ratio of peak velocity of aortomesenteric and hilar portions of left renal vein of 7.7 and enlargement of the left renal vein in the hilar portion. With a diagnosis of nutcracker syndrome, the patient received conservative treatment. During follow-up, progressive remission of the recurrent episodes of hematuria and proteinuria was observed. The patient had no clinical symptoms or abnormal urinalysis. At 13 months of follow-up the body mass index was 19 kg/m2. CONCLUSIONS: This case shows the relationship between the increase in body mass index and remission of nutcracker syndrome, manifested as left varicocele, hematuria and massive proteinuria. All symptoms disappeared with the increase of body mass index, probably due to increase in retroperitoneal fat with improvement of the aortomesenteric angle of the left renal vein.