Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1

Bingham, Coralie

doi:10.1093/ndt/gfh348

Cited by 174 publications

(195 citation statements)

References 28 publications

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“…However, although these data suggest a strong correlation between phenotype and genotype, the association is not absolute, as shown by differences in the degree to which ␤-cell function is impaired in patients with the R201H (2,38,43) and C42R (44) mutations and the absence of developmental delay in three patients with the V59M mutation. This implies that genetic background and environmental factors influence the clinical phenotype, as found for other monogenic subtypes of diabetes (51,52).…”

Section: Kir62 As a Candidate Gene For Neonatal Diabetesmentioning

confidence: 87%

Activating Mutations in Kir6.2 and Neonatal Diabetes

2005

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Section: Kir62 As a Candidate Gene For Neonatal Diabetesmentioning

confidence: 87%

Activating Mutations in Kir6.2 and Neonatal Diabetes

2005

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“…However, glomerulomegaly, glomerulocystic disease, and small tubular cysts may be encountered. 15 Faguer et al reported a renal function decline of 22.45 ml/min per 1.73 m 2 per year over a median followup of 5.5 years in their cohort of HNF1b patients. 12 About 13%-15% of patients eventually develop ESRD.…”

Section: Hnf1b-associated Kidney Diseasementioning

confidence: 94%

“…Liver enzymes, particularly alanine aminotransferase and g-glutamyl transpeptidase, are frequently elevated without signs of liver disease or hepatic insufficiency, like in our second patient. 15 Liver biopsy in HNF1b patients with abnormal liver enzyme levels generally reveals normal liver tissue. 25 Interestingly, hepatic cyst formation does not appear to occur.…”

Section: Elevated Liver Enzymesmentioning

confidence: 99%

Hepatocyte Nuclear Factor 1β–Associated Kidney Disease

Verhave

Bech

Wetzels

et al. 2016

Journal of the American Society of Nephrology

125

119

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Hepatocyte nuclear factor 1b (HNF1b)-associated disease is a recently recognized clinical entity with a variable multisystem phenotype. Early reports described an association between HNF1B mutations and maturity-onset diabetes of the young. These patients often presented with renal cysts and renal function decline that preceded the diabetes, hence it was initially referred to as renal cysts and diabetes syndrome. However, it is now evident that many more symptoms occur, and diabetes and renal cysts are not always present. The multisystem phenotype is probably attributable to functional promiscuity of the HNF1b transcription factor, involved in the development of the kidney, urogenital tract, pancreas, liver, brain, and parathyroid gland. Nephrologists might diagnose HNF1b-associated kidney disease in patients referred with a suspected diagnosis of autosomal dominant polycystic kidney disease, medullary cystic kidney disease, diabetic nephropathy, or CKD of unknown cause. Associated renal or extrarenal symptoms should alert the nephrologist to HNF1b-associated kidney disease. A considerable proportion of these patients display hypomagnesemia, which sometimes mimics Gitelman syndrome. Other signs include early onset diabetes, gout and hyperparathyroidism, elevated liver enzymes, and congenital anomalies of the urogenital tract. Because many cases of this disease are probably undiagnosed, this review emphasizes the clinical manifestations of HNF1b-associated disease for the nephrologist.

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“…Some types of nephronophthisis may resemble UAKD, but the inheritance is autosomal recessive and renal ultrasound may show cysts or other abnormalities; various extrarenal manifestations are present in some types of nephronophthisis. RCAD is usually associated with macroscopic renal cysts; diabetes and hyperuricemia are not always present [51]. ADPKD and autosomal recessive PKD are usually easily ruled out by renal ultrasound.…”

Section: Diagnosis Of Uakdmentioning

confidence: 99%