This case involves a 3-year-old male patient that presented to the ER with complaints of severe abdominal pain. The patient was ultimately diagnosed with Hirschsprung’s disease but a delay in timely diagnoses likely led to many complications. The patient required a colectomy and extensive intestinal surgery to remove the diseased portion of his intestine. He now suffers from permanent renal failure and requires a kidney transplant.
Question(s) For Expert Witness
- 1. Could a more timely diagnosis have made a difference in this case?
Expert Witness Response E-005880
Hirschsprung Disease is quite commonly associated with congenital anomalies of the kidneys and urinary tract. In fact, there are a number of studies that suggest 1/4 of patients with Hirschsprung Disease have something wrong with their kidney. Research has implicated problems with the RET gene and also microdeletions of 16p11.2. In investigating and managing patients with Hirschsprung Disease, awareness of this association means that physicians should be on the lookout for renal problems. Renal ultrasounds, urinalysis, and kidney function tests may identify these problems sooner. If the primary physician or surgeon identifies a problem with the kidney, then a nephrologist should be consulted right away. Early diagnosis of these diseases allows for management which may prevent or at least delay the development of kidney failure. Given the morbidity and mortality of this condition, even delaying a few years means a huge difference in costs and quality of life.
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