A Case of Juvenile Nephronophthisis Presenting Severe Short Stature
スポンサーリンク
概要
- 論文の詳細を見る
We report a 12-years-old boy presenting short stature, nystagmus and anemia. His growth failure became evident at the age of 7 years and progressive from then on. Routine urinalysis, which was performed every year in most of the school children in Japan, gave negative results repeatedly. When he first visited our hospital for the evaluation of short stature, he had already had azotemia and markedly increased urinary excretion of both β2 microglobulin and growth hormone (GH). Histological findings on renal biopsy led us to the diagnosis of his having familial juvenile nephronophthisis (FJN). Therefore, we should be aware that the diagnosis of FJN also has to be taken into consideration in patients with progressive growth retardation of childhood onset especially when they had marked elevation of urinary β2 microglobulin and GH. As the direct cause (s) of growth failure has not yet been fully understood in FJN, abundant urinary loss of GH and other components essential for normal growth may also have to be assessed to clarify the pathogenesis of impaired growth.
- 日本小児内分泌学会の論文
日本小児内分泌学会 | 論文
- 43 Common origin of the Q258X mutation in StAR gene responsible for congenital aderenal lipoid hyperplasia in Japanese
- Recent Change in the Annual Incidence of Childhood Type 2 Diabetes in the Tokyo Metropolitan Area
- A Case of Acute Lymphoblastic Leukemia with Prader-Willi Syndrome during Growth Hormone Therapy
- Characteristics of a Fulminant Onset Form of Idiopathic Type 1 Diabetes Mellitus in Japanese Children
- Different Skeletal Phenotypes in a Mother and Two Daughters with Short Stature Homeobox-Containing Haploinsufficiency