Monday, July 19, 2010


In this syndrome, kids usually present with neurogenic bladders, severe voiding difficulties, constipation, leading to chronic hydronephrosis and CKD at early age. A characteristic feature is a facial abnormality, they seem to be crying as they smile . 

Dent's Disease  0%
Geller Syndrome 4%
Ochoa Syndrome 52%
Denys Drash Syndrome 14%
Fraiser Syndrome 28%

Lets take one by one. 
Dent's Disease is usually associated with an "electrolyte disorder"
related disease. It is an X linked recessive disease that affects the proximal tubules of the kidney. Kids usually have extreme thirst, nephrolithiasis,and hypercalciuria.  Fanconi syndrome, kidney stones, tubular proteinuria and CKD are hallmarks of the disease. Due to a proxmial RTA, kids get rickets. By mid adulthood, one can get CKD-ESRD.  Amiloride and HCTZ might be beneficial in treating the disease.

Geller Syndrome is an extremely rare disorder that usually presents in pregnancy. It is caused by missense mutation in the mineralocorticoid receptor(MR) leading to severe hypertension with hypokalemic metabolic alkalosis can occur. This entity should be suspected in a previously normotensive patient who develops severe hypertension and hypokalemia during pregnancy, particularly during second and third trimester, when progesterone levels are high. Spironolactone is ineffective as the mutated receptor is not blocked by it. Patients should be managed with antihypertensive agents. Subsequent to delivery, when progesterone level normalizes, patients become normotensive again.
Denys Drash Syndrome is characterized by the following conditions: gonadal dysgenesis,diffuse mesangial sclerosis and FSGS with high risk of Wilm's Tumor. Clinically, they have loss of playfulness, decreased appetite, weight loss, growth delay, abnormal skeletal development, insomnia, abdominal pain, constipation as well. Electron microscopy reveals hypertrophic mesangial cells surrounded by an abundant mesangial matrix, which often contains collagen fibrils. The podocytes are hypertrophied and contain many vacuoles. There is also irregular effacement of foot processes with focal detachment of the epithelial cell from the glomerular basement membrane.

Fraiser Syndrome also causes FSGS. 
Frasier syndrome presents at birth with male pseudohermaphroditism (the external genetalia have a female appearance despite an XY genotype), streak gonads and progressive glomerulonephropathy (focal segemental glomerulosclerosis). Patients are also at increased risk of genitourinary tumours (usually gonadoblastoma). The glomerulonephropathy presents later than in Denys-Drash syndrome, and the tumour risk phenotype is different - whilst DDS is associated with Wilms' tumour, Frasier syndrome is associated with gonadoblastoma. Most present at puberty.  Phenotypically they are female with amenorrhea, XY karyotype.

The correct answer is Ochoa Syndrome: or Urofacial syndrome.  This is a rare autosomal recessive disorder associated with both lower urinary tract and bowel and a particular facial expression. When they are asked to smile, it appears that they are crying.  They usually have neurogenic bladder or obstructive kidney disease.  Neurological exam is normal.  Its not a muscular thing, its a structural facial defect.  They usually lead to CKD by adulthood.  Most patients are not diagnosed.  Take a look at a recent Make your diagnosis in Kidney international
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