Kidney hypoplastic

Patients exhibit microcephaly with mental retardation, bone marrow insufficiency leading to anemia and leukopenia (decreased WBC count), and hypoplastic kidneys. 

Mitochondrial disorders are not commonly regarded as causes of malformations. Facial features included round face, high forehead, small nose, and long flat philtrum, reminiscent of the fetal alcohol syndrome. Limb and trunk involvements included short hands, brachydactyly, hypoplasia of the distal and middle phalanges, hypoplastic nails, and the VACTERL [vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal (kidney) and/or radial anomalies, and preaxial limb anomalies (in front of or above the central axis of the limb)] association [50]. 

Oxymetholone, an anabolic steroid (1 to 5 mg/kg/day), is indicated for the treatment of anemias caused by deficient red cell production, acquired or congenital aplastic anemia, myelofibrosis, and hypoplastic anemias due to the administration of myelotoxic drugs. Oxymetholone stimulates the kidney production of erythropoietin, leading to increases in red blood cell number, mass, and volume (see also Figure 44). Oxymetholone is contraindicated in patients with severe renal or cardiac disease, which may be worsened by the fluid and electrolyte retention, and in patients with prostatic hypertrophy with obstruction or prostatic cancer. The side effects associated with anabolic steroids include cholestatic jaundice, prepubertal phallic... 

Anomalies of renal position and rotation are well demonstrated by the high resolution anatomic images. Horseshoe and ectopic kidneys can be easily separated from the background and overlying tissues. Pelvic kidneys in particular, which often are significantly smaller than the normally positioned kidney, are well demonstrated with MR urography (Fig. 1.2.13). Hypoplastic kidneys associated with ureteric ectopia and supernumerary kidneys, which have been difficult to demonstrate with other imaging modalities, can usually be demonstrated even if there is minimal renal function. 

Fig. 1.2.13a,b. Ectopic, hydronephrotic and hypoplastic kidney, a Coronal post-contrast MIP showing a pelvic kidney on the right. The vDRF was calculated at 32% on the right, b Delayed images demonstrate hydronephrosis, but no evidence of obstruction was seen with a renal transit time less than 4 min... 

Oral-facial-digital syndrome type 1 Lobulated tongue, median pseudocleft of lip, cleft palate, hypoplastic alae nasi, digital anomalies, mental impairment Often late onset polycystic kidney disease X-1 (311200) CXORF5... 

Familial aggregation of hydronephrosis in families with ureteropelvic junction obstruction has been described in several studies. In many cases hydronephrosis can he regarded as manifestation of a spectrum including hydronephrosis - cortical renal cysts (Potter type IV) - hypoplastic/dysplastic or multicystic kidneys - renal agenesis, depending on the time of the interaction of a disruption (e.g. obstruction). Hydronephrosis can also be a part of more complex genetic syndromes (Table 3.4). 

Kaplan BS, Fay J, Shah V et al (1989) Autosomal recessive polycystic kidney disease. Pediar Nephrol 3 43-49 Kaplan BS, Kaplan P, Rosenberg HK et al (1989) Polycystic kidney diseases in childhood. J Pediatr 115 867-880 Kaplan BS, Gordon I, Pincott J et al (1989) Familial hypoplastic glomerulocystic kidney disease a definite entity with dominant inheritance. Am J Med Genet 34 569-573... 

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