Primer caso reportado en Colombia de hipoplasia renal congénita bilateral en dos hermanos

José Augusto Urrego-Díaz; José David Romero-Rueda; Guillermo Landinez-Millán; Carlos Javier Lozano-Triana; Luz Angela Moreno-Gómez

Publicado

2014-04-01

Primer caso reportado en Colombia de hipoplasia renal congénita bilateral en dos hermanos

The first case to be reported in Colombia of bilateral congenital renal hypoplasia in two brothers

Palabras clave:

Anomalías Congénitas, Riñón, Pediatría, ultrasonografía (es)
Congenital Abnormalities, Kidney, Pediatrics, ultrasonography (en)

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Autores/as

José Augusto Urrego-Díaz Facultad de Medicina. Universidad Nacional de Colombia. Bogotá, Colombia.
José David Romero-Rueda Facultad de Medicina. Universidad Nacional de Colombia. Bogotá, Colombia.
Guillermo Landinez-Millán Departamento de Pediatría. Facultad de Medicina. Universidad Nacional de Colombia. Bogotá, Colombia.
Carlos Javier Lozano-Triana Departamento de Pediatría. Facultad de Medicina. Universidad Nacional de Colombia. Bogotá, Colombia.
Luz Angela Moreno-Gómez Departamento de Radiología e Imágenes Diagnósticas. Facultad de Medicina. Universidad Nacional de Colombia. Bogotá, Colombia.

Resumen (es)
Resumen (en)

Las anormalidades congénitas del riñón y de vías urinarias son la primera causa de falla renal en la niñez. Una de estas anormalidades es la hipoplasia renal, definida como un riñón de tamaño disminuido que conserva su forma y parte de su función. Su presentación unilateral es más común que la bilateral con una relación de 7:1, de tal forma que esta última es una presentación no usual. Así mismo, es escasa la información sobre casos de hipoplasia renal congénita bilateral (HRCB) en miembros de una misma familia. En este artículo se reporta el caso de dos hermanos con HRCB, diagnosticada por ecografía renal y de vías urinarias. El primero de ellos recibió el diagnóstico de HRCB a los cuatro años de edad, tras requerir estudio ecográfico por persistencia de talla baja para la edad en sus controles de crecimiento y desarrollo; el siguiente paciente tenía ocho años de edad al momento del diagnóstico, es hermano del anterior caso y su diagnóstico de HRCB fue hallado en un estudio ecográfico realizado por compromiso en su función renal. En ambos casos el estudio imagenológico reportó disminución en el tamaño renal bilateral según el índice de Hodson. El objetivo principal de este documento es el de dar a conocer esta patología que, si bien es rara, no deja de ser importante su presentación bilateral y su asociación familiar, de las que se tiene poca información en la literatura médica. Se espera que en el futuro esta información sirva para el tamizaje familiar de los pacientes con HRCB.

Congenital anomalies concerning the kidneys and urinary tract represent a heterogeneous group of defects and the main cause of renal failure during childhood. Kidney hypoplasia is one such defect; it is defined in clinical practice as a kidney which is significantly shorter than normal but retains a normal shape and some of its function. Bilateral congenital kidney hypoplasia (BCKH) is 7 times less more frequent than unilateral hypoplasia, thus being one of the rarest anomalies of the kidney and urinary tract. The presence of BCKH in more than one family member is even rarer. This article deals with two male brothers having BCKH diagnosed through ultrasonography of the kidneys and urinary tract. A postnatal diagnosis was made for both of them; the younger brother received his diagnosis when he was 4 years old after being studied for the persistence of low height for his age and the older brother received his at 8 years of age after decreased renal function was revealed during hospitalisation. Ultrasonography study showed reduced size for both kidneys in both cases, according to Hodson's index. This article discusses aspects concerning this congenital anomaly and highlights this disorder's importance in some clinical scenarios. It is hoped that this information may be of use during the initial approach to the family of a BCRH patient.

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