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What Does This Ultrasound Report Indicate?
Question: A 15 year female patient had complains of loss of appetite, nausea, vomiting, pain in both legs, easy fatiguability, she was diagnosed as HDR syndrome(Hypoparathyroidism/Deafness?Renal Dysplasia).
Patient is k/c/o hypoparathyroidism since birth.Patient is k/c/o Calcium deficiency since birth.USG report s/o-Chronic Medical Renal Disease affecting Right Kidney,non-visualization of left kidney in the left renal fossa or in the rest of abdomen is most likely s/o absent left kidney, bicornuate uterus.
My concern is can this be considered as genetic disease?
Patient is k/c/o hypoparathyroidism since birth.Patient is k/c/o Calcium deficiency since birth.USG report s/o-Chronic Medical Renal Disease affecting Right Kidney,non-visualization of left kidney in the left renal fossa or in the rest of abdomen is most likely s/o absent left kidney, bicornuate uterus.
My concern is can this be considered as genetic disease?
Brief Answer:
looks like a genetic disease
Detailed Answer:
Hi,
the way you describe the things what i would conclude is--
1. she has only one kidney-- so this itself is a genetic defect.
2. she has a second kidney ( Right kidney ) - which is small. the fact that she is alive at 15 years means that this kidney was working fine at childhood. then why it is damaged now - this could be due to some defect in the working of the kidney which again would point to some genetic defect. Vesico-ureteric reflux is common in these patients and can be a cause of recurrent uti and kidney failure.
3. hypoparathyroidism and hypocalcemia at birth are also indicator of some genetic defect.
so over all this points to a genetic disorder
best wishes.
looks like a genetic disease
Detailed Answer:
Hi,
the way you describe the things what i would conclude is--
1. she has only one kidney-- so this itself is a genetic defect.
2. she has a second kidney ( Right kidney ) - which is small. the fact that she is alive at 15 years means that this kidney was working fine at childhood. then why it is damaged now - this could be due to some defect in the working of the kidney which again would point to some genetic defect. Vesico-ureteric reflux is common in these patients and can be a cause of recurrent uti and kidney failure.
3. hypoparathyroidism and hypocalcemia at birth are also indicator of some genetic defect.
so over all this points to a genetic disorder
best wishes.
Note: For further queries related to kidney problems and comprehensive renal care, talk to a Nephrologist. Click here to Book a Consultation.
Above answer was peer-reviewed by :
Dr. Vaishalee Punj
Answered by
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