A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes
| Autor: | Alan H. Stolpen, Christie P. Thomas, Emma L. Edghill, Jerold C. Erlandson, Andrew T. Hattersley |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Nephrology
medicine.medical_specialty Pediatrics Cardiovascular examination Kidney cysts Internal medicine Diabetes mellitus medicine Humans Family history Hepatocyte Nuclear Factor 1-beta business.industry Syndrome Kidney Diseases Cystic Middle Aged medicine.disease Kidney Transplantation Magnetic Resonance Imaging Gout Surgery Diabetes Mellitus Type 1 Mutation Kidney Failure Chronic Female medicine.symptom business Multiple renal cysts Kidney disease |
| Zdroj: | Kidney International. 74:1094-1099 |
| ISSN: | 0085-2538 |
| DOI: | 10.1038/ki.2008.227 |
| Popis: | Department of Radiology, University of IowaCollege of Medicine, Iowa City, Iowa, USACASE PRESENTATIONThe patient is a 48-year-old female who was referred fora renal transplant evaluation in 2006. She was firstdiagnosed with kidney disease in her teens afterpresenting with fatigue and general malaise. On referral toa local nephrologist approximately 30 years ago, animaging study was performed demonstrating renal cystsand the patient was diagnosed to have medullary cystickidney disease (MCKD). At the age of 19, the patient wasdiagnosed with type 1 diabetes and insulin therapy wasstarted. Over the next several years, her kidney functiondeclined slowly (Figure 1).On presentation for her transplant evaluation, hermajor symptom was fatigue, which had not changedsubstantially in 30 years. She also had occasional backpain, which was attributed to bleeding within renal cysts.The patient had no history of gout or genitourinary tractanomalies.There was no history of kidney disease, gout, ordiabetes in first-degree relatives. She has two healthybrothers and healthy parents and has no children. There isa paternal family history of diabetes in second-degreerelatives. Her first menses was at age 12 and were regularuntil 3 months before her appointment. The patient hashad no pregnancies or miscarriages.Physical examination revealed a temperature of36.91C, pulse 101, and blood pressure of 128/92mmHg.There was no evidence of dysmorphic features,pre-auricular pits, or tophi. Her oropharynx was withoutlesions and her palatal arch and dentition were normal.Fundoscopic examination was significant for evidenceof copper wiring with early AV nicking, scatteredmicroaneurysms without hemorrhage, and sharp diskmargins. Her neck examination showed no goiter orlymphadenopathy. Cardiovascular examination wasnormal and her lung fields were clear to auscultation.Examination of the abdomen was unrevealing with nohepatosplenomegaly. There were no flank masses ortenderness noted.Laboratory studies at the time of transplant evaluationshowed a creatinine of 2.8mg/100 ml with an estimatedglomerular filtration rate of 19.9ml/min/1.73 m |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|