Diagnosis and Treatment > Investigation > Hydroxypregnenolone

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Naoya Toriu Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Masayuki Yamanouchi Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Rikako Hiramatsu Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Noriko Hayami Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Junichi Hoshino Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Akinari Sekine Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Masahiro Kawada Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Eiko Hasegawa Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Tatsuya Suwabe Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Keiichi Sumida Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Toshiharu Ueno Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Naoki Sawa Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan

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Kenichi Ohashi Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan
Department of Pathology, Yokohama City University, Graduate School of Medicine, Yokohama, Japan

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Takeshi Fujii Department of Pathology, Toranomon Hospital, Tokyo, Japan

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Kenmei Takaichi Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan
Okinaka Memorial Institute for Medical Research, Tokyo, Japan

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Motoko Yanagita Department of Nephrology, Kyoto University Graduate School of Medicine, Japan

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Tetsuro Kobayasi Okinaka Memorial Institute for Medical Research, Tokyo, Japan

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Yoshifumi Ubara Nephrology Center and Department of Rheumatology, Toranomon Hospital, Tokyo, Japan
Okinaka Memorial Institute for Medical Research, Tokyo, Japan

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Summary

We report the case of a 67-year-old Japanese woman with type 1 diabetes mellitus. At 47 years of age, her hemoglobin A1c (HbA1c) was 10.0%, and she had overt nephropathy. The first renal biopsy yielded a diagnosis of diabetic nephropathy. Intensive glycemic control was initiated and her HbA1c improved to 6.0%. Renal dysfunction showed no progression for 15 years. At 62 years of age, a second renal biopsy was performed. Glomerular lesions did not show progression but tubulointerstitial fibrosis and vascular lesions showed progression compared with the first biopsy. Intensive glycemic control can prevent the progression of glomerular lesions, but might not be effective for interstitial and vascular lesions.

Learning points:

  • Intensive control of blood glucose can prevent the progression of glomerular lesions.

  • Intensive control of blood glucose may not be able to prevent progression of interstitial and vascular lesions.

  • CSII reduces HbA1c without increasing the risk of hypoglycemia.

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Jasmeet Kaur Division of Biomedical Science, Department of Biochemistry, Mercer University School of Medicine and Memorial University Medical Center, Hoskins Research Building, 4700 Waters Avenue, Savannah, Georgia, 31404, USA

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Luis Casas Division of Endocrinology, Department of Pediatrics, University of North Dakota, Fargo, North Dakota, USA

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Himangshu S Bose Division of Biomedical Science, Department of Biochemistry, Mercer University School of Medicine and Memorial University Medical Center, Hoskins Research Building, 4700 Waters Avenue, Savannah, Georgia, 31404, USA
Anderson Cancer Institute, Memorial University Medical Center, Savannah, Georgia, 31404, USA

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Summary

Lipoid congenital adrenal hyperplasia (lipoid CAH), the most severe form of CAH, is most commonly caused by mutations in steroidogenic acute regulatory protein (STAR), which is required for the movement of cholesterol from the outer to the inner mitochondrial membranes to synthesize pregnenolone. This study was performed to evaluate whether the salt-losing crisis and the adrenal inactivity experienced by a Scandinavian infant is due to a de novo STAR mutation. The study was conducted at the University of North Dakota, the Mercer University School of Medicine and the Memorial University Medical Center to identify the cause of this disease. The patient was admitted to a pediatric endocrinologist at the Sanford Health Center for salt-losing crisis and possible adrenal failure. Lipoid CAH is an autosomal recessive disease, we identified two de novo heterozygous mutations (STAR c.444C>A (STAR p.N148K) and STAR c.557C>T (STAR p.R193X)) in the STAR gene, causing lipoid CAH. New onset lipoid CAH can occur through de novo mutations and is not restricted to any specific region of the world. This Scandinavian family was of Norwegian descent and had lipoid CAH due to a mutation in S TAR exons 4 and 5. Overexpression of the STAR p.N148K mutant in nonsteroidogenic COS-1 cells supplemented with an electron transport system showed activity similar to the background level, which was ∼10% of that observed with wild-type (WT) STAR. Protein-folding analysis showed that the finger printing of the STAR p.N148K mutant is also different from the WT protein. Inherited STAR mutations may be more prevalent in some geographical areas but not necessarily restricted to those regions.

Learning points

  • STAR mutations cause lipoid CAH.

  • This is a pure population from a caucasian family.

  • Mutation ablated STAR activity.

  • The mutation resulted in loosely folded conformation of STAR.

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