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Adrenal and Renal Physiology, and Medical Renal Disease
2466
ADRENAL AND RENAL PHYSIOLOGY, AND MEDICAL RENAL DISEASE
Unfortunately by this time he already had metastasis. He received cisplatin, etoposide and bleomycin chemotherapy, and survived. Even with semiannual visits and a more aggressive followup program than many would endorse the boy in this report presented with late stage disease. Testicular microlithiasis may act as a marker of an abnormal testis affected by a range of abnormal processes, some of which may be associated with testicular malignancy.1 I used to believe TM was a benign condition. In most boys it is. However, cancer will develop in a few with TM. All of us need to be sure that our patients with TM are religious about self-examination. I am still not sure how frequently we should use testicular ultrasound in routine followup. Douglas A. Canning, M.D. 1. Cast JE, Nelson WM, Early AS et al: Testicular microlithiasis: prevalence and tumor risk in a population referred for scrotal sonography. AJR Am J Roentgenol 2000; 175: 1703.
Adrenal and Renal Physiology, and Medical Renal Disease Phaeochromocytoma in Children R. Armstrong, M. Sridhar, K. L. Greenhalgh, L. Howell, C. Jones, C. Landes, J. L. McPartland, C. Moores, P. D. Losty and M. Didi Department of Clinical Genetics, Royal Liverpool Children’s Hospital, Liverpool, United Kingdom Arch Dis Child 2008; 93: 899 –904.
Phaeochromocytoma is a rare clinical entity in children. Contrary to traditional teaching, which suggested that 10% of phaeochromocytomas are “familial”, a germline mutation has been identified in up to 59% (27/48) of apparently sporadic phaeochromocytomas presenting at 18 years old or younger and in 70% of those presenting before 10 years of age. The inherited predisposition may be attributable to a germline mutation in the Von Hippel-Lindau gene, the genes encoding the subunits B and D of succinate dehydrogenase, the RET proto-oncogene predisposing to multiple endocrine neoplasia type 2, or the neurofibromatosis type 1 gene. Of these, the Von Hippel-Lindau gene is the most commonly mutated gene in children presenting with a phaeochromocytoma. Genetic counselling is recommended before gene testing and investigation of the wider family. This review provides guidance on the aetiology, investigation, management, histopathology, genetics and follow-up of children with a phaeochromocytoma. Editorial Comment: This is a review of pheochromocytomas occurring in childhood. The teaching in the past has been that 10% of these tumors are inherited. Recent findings suggest that 60% to 70% of patients 18 years old or younger have an inherited predisposition. These factors include germ-line mutations in the von Hippel-Lindau gene, genes that code for the subunits B and D of succinate dehydrogenase, the RET proto-oncogene and the neurofibromatosis type 1 gene. The VHL gene is perhaps the most commonly mutated. The authors suggest that any patient presenting at 18 years old or younger with pheochromocytoma be screened for genetic abnormalities. These patients may present with vague nonspecific symptoms. Hypertension is the most common presenting symptom in childhood. Patients suspected of having the disease should perform 24-hour urine collection for metanephrines and catecholamines. Perhaps a more sensitive test in those who are highly suspected of having the disease is measurement of fractionated plasma metanephrines. Management is by surgical excision with appropriate preoperative volume expansion to decrease intraoperative and postoperative morbidity. The incidence of malignancy is low. W. Scott McDougal, M.D.
ADRENAL AND RENAL PHYSIOLOGY, AND MEDICAL RENAL DISEASE
Unfortunately by this time he already had metastasis. He received cisplatin, etoposide and bleomycin chemotherapy, and survived. Even with semiannual visits and a more aggressive followup program than many would endorse the boy in this report presented with late stage disease. Testicular microlithiasis may act as a marker of an abnormal testis affected by a range of abnormal processes, some of which may be associated with testicular malignancy.1 I used to believe TM was a benign condition. In most boys it is. However, cancer will develop in a few with TM. All of us need to be sure that our patients with TM are religious about self-examination. I am still not sure how frequently we should use testicular ultrasound in routine followup. Douglas A. Canning, M.D. 1. Cast JE, Nelson WM, Early AS et al: Testicular microlithiasis: prevalence and tumor risk in a population referred for scrotal sonography. AJR Am J Roentgenol 2000; 175: 1703.
Adrenal and Renal Physiology, and Medical Renal Disease Phaeochromocytoma in Children R. Armstrong, M. Sridhar, K. L. Greenhalgh, L. Howell, C. Jones, C. Landes, J. L. McPartland, C. Moores, P. D. Losty and M. Didi Department of Clinical Genetics, Royal Liverpool Children’s Hospital, Liverpool, United Kingdom Arch Dis Child 2008; 93: 899 –904.
Phaeochromocytoma is a rare clinical entity in children. Contrary to traditional teaching, which suggested that 10% of phaeochromocytomas are “familial”, a germline mutation has been identified in up to 59% (27/48) of apparently sporadic phaeochromocytomas presenting at 18 years old or younger and in 70% of those presenting before 10 years of age. The inherited predisposition may be attributable to a germline mutation in the Von Hippel-Lindau gene, the genes encoding the subunits B and D of succinate dehydrogenase, the RET proto-oncogene predisposing to multiple endocrine neoplasia type 2, or the neurofibromatosis type 1 gene. Of these, the Von Hippel-Lindau gene is the most commonly mutated gene in children presenting with a phaeochromocytoma. Genetic counselling is recommended before gene testing and investigation of the wider family. This review provides guidance on the aetiology, investigation, management, histopathology, genetics and follow-up of children with a phaeochromocytoma. Editorial Comment: This is a review of pheochromocytomas occurring in childhood. The teaching in the past has been that 10% of these tumors are inherited. Recent findings suggest that 60% to 70% of patients 18 years old or younger have an inherited predisposition. These factors include germ-line mutations in the von Hippel-Lindau gene, genes that code for the subunits B and D of succinate dehydrogenase, the RET proto-oncogene and the neurofibromatosis type 1 gene. The VHL gene is perhaps the most commonly mutated. The authors suggest that any patient presenting at 18 years old or younger with pheochromocytoma be screened for genetic abnormalities. These patients may present with vague nonspecific symptoms. Hypertension is the most common presenting symptom in childhood. Patients suspected of having the disease should perform 24-hour urine collection for metanephrines and catecholamines. Perhaps a more sensitive test in those who are highly suspected of having the disease is measurement of fractionated plasma metanephrines. Management is by surgical excision with appropriate preoperative volume expansion to decrease intraoperative and postoperative morbidity. The incidence of malignancy is low. W. Scott McDougal, M.D.