A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.

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hyperuricemia 15 endocrinologydiseases

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hyperuricemia 505 uromodulin gene (ADTKD-UMOD) is a spectrum of hereditary renal disorders, characterized by early-onset hyperuricemia , gout and progressive nephropathy. This study presented a novel UMOD mutation in an ADTKD pedigree and
hyperuricemia 721 reviewed studies in Chinese population. The index patient is a 16-year-old girl with hypertension, hyperuricemia and normal serum creatinine level. Four affected and six unaffected members were available for genetic
hyperuricemia 2293 (MCKD2) and UMOD-associated kidney disease [[1],[2]]. This disease was characterized by early-onset hyperuricemia , gout and hypertension, reduced fractional renal urate excretion and progressive interstitial nephropathy
hyperuricemia 4449 elevated uric acid level (>7 mg/ml). The patient had a positive family history of early-onset gout, hyperuricemia and ESRD. The clinical information of the patient’s parents and one paternal aunt was collected during
hyperuricemia 6393 who complained of recurrent headache for 2 years. At the age of 14, she was found to have increased hyperuricemia with hypertension (160/90 mmHg). Laboratory examinations on admission revealed slightly impaired renal
hyperuricemia 7295 1). The clinical features of these patients were described in Table 1. Seven of them suffered from hyperuricemia and gout before the age of 40, five died from end-stage renal diseases (ESRD) between 36 and 45, only
hyperuricemia 7513 three stayed alive. Among alive individuals, one 63-year-old female patient (II-5) developed gout and hyperuricemia at the age of 39, progressed to ESRD at 61 and started hemodialysis since then. After hemodialysis,
hyperuricemia 8126 was well controlled by irbesartan. The other 32-year-old female patient (III-16) was diagnosed with hyperuricemia at the age of 32, but she refused to take any medicine due to plan for pregnancy. Her serum creatinine
hyperuricemia 9388 domain; ESRD: end-stage renal disease; GPI: glycosylphosphatidylinositol segment; HTN: hypertension; HUA: hyperuricemia ; n/N: affected family members/number of screened patients/; NA: not available.aData from part of patients
hyperuricemia 11207 index patient (16-year-old) in this study and another case (21-year-old) presented hypertension and hyperuricemia with normal serum creatinine level. Median age at ESRD development or death were 41.9 years (range
hyperuricemia 11657 of dialysis and kidney transplantation, two patients were reported to be relieved from symptoms of hyperuricemia and gout, and had blood pressure under control.Table 2.The age of onset of hyperuricemia and ESRD in
hyperuricemia 11746 symptoms of hyperuricemia and gout, and had blood pressure under control.Table 2.The age of onset of hyperuricemia and ESRD in different affected UMOD domain.UMOD domainsMedian age at HUAMedian age at ESRDD8C20.5 (12.5,30.5),
hyperuricemia 14503 from 74 families, most of them were Caucasian [[4]]. The results showed that median ages at onset of hyperuricemia and ESRD were 24 and 56 years, respectively [[4]]. Compared with these patients, Chinese patients
hyperuricemia 14656 respectively [[4]]. Compared with these patients, Chinese patients seemed to have equivalent onset-age of hyperuricemia (26.5 years), but progressed in a more aggressive manner to ESRD (41.9 years), about 14 years
hyperuricemia 16141 This study stressed the importance of the UMOD gene tests in diagnosis of a spectrum of early-onset hyperuricemia with renal disorders and/or family history of renal disorders

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