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Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1β Mutations

Christine Bellanné-Chantelot, PharmD, PhD; Dominique Chauveau, MD; Jean-François Gautier, MD, PhD; Danièle Dubois-Laforgue, MD, PhD; Séverine Clauin; Sandrine Beaufils; Jean-Marie Wilhelm, MD; Christian Boitard, MD; Laure-Hélène Noël, MD; Gilberto Velho, MD, PhD; and José Timsit, MD
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From Hôpital Saint-Antoine, Hôpital Cochin, Hôpital Necker, Hôpital Saint-Louis, and Hôpital Saint-Vincent-de-Paul, Paris, France, and Hôpital Saint-Morand, Altkirch, France.


Acknowledgments: The authors thank the families for their participation in the study; Drs. Véronique Baudouin, Véronique Blanchetier, Guy Parlier, and Rémi Salomon for the follow-up of patients; and Dr. Pascal Hammel for helpful advice.

Potential Financial Conflicts of Interest: None disclosed.

Requests for Single Reprints: Christine Bellanné-Chantelot, PharmD, PhD, Fédération des Services de Biochimie, Laboratoire de Biologie Moléculaire, Hôpital Saint-Antoine, 184 rue du faubourg Saint-Antoine, 75012 Paris, France; e-mail, christine.bellanne@sat.ap-hop-paris.fr.

Current Author Addresses: Dr. Bellanné-Chantelot, Ms. Clauin, and Ms. Beaufils: Fédération des Services de Biochimie, Laboratoire de Biologie Moléculaire, Hôpital Saint-Antoine, 184 rue du Faubourg Saint-Antoine, 75012 Paris, France.

Drs. Chauveau and Noël: Service de Néphrologie, Hôpital Necker, 161 rue de Sèvres, 75015 Paris, France.

Dr. Gautier: Service d'Endocrinologie, Hôpital Saint-Louis, 1 Avenue Claude Vellefaux, 75010 Paris, France.

Drs. Dubois-Laforgue, Boitard, and Timsit: Service d'Immuno-Diabétologie, Hôpital Cochin, 27 rue du Faubourg Saint-Jacques, 75014 Paris, France.

Dr. Wilhelm: Centre Hospitalier Saint-Morand, BP 1022, 68134 Altkirch Cedex, France.

Dr. Velho: INSERM U561, Hôpital Saint-Vincent-de-Paul, 74 Avenue Denfert Rochereau, 75014, Paris, France.

Author Contributions: Conception and design: C. Bellanné-Chantelot, D. Chauveau, G. Velho, J. Timsit.

Analysis and interpretation of the data: C. Bellanné-Chantelot, D. Chauveau, J.-F. Gautier, D. Dubois-Laforgue, S. Clauin, S. Beaufils, J.-M. Wilhelm, C. Boitard, L.-H. Noël, G. Velho, J. Timsit.

Drafting of the article: C. Bellanné-Chantelot, D. Chauveau, G. Velho, J. Timsit.

Critical revision of the article for important intellectual content: C. Bellanné-Chantelot, D. Chauveau, J.-F. Gautier, D. Dubois-Laforgue, C. Boitard, G. Velho, J. Timsit.

Final approval of the article: C. Bellanné-Chantelot, D. Chauveau, J.-F. Gautier, D. Dubois-Laforgue, S. Clauin, S. Beaufils, J.-M. Wilhelm, C. Boitard, L.-H. Noël, G. Velho, J. Timsit.

Provision of study materials or patients: D. Chauveau, J.-F. Gautier, D. Dubois-Laforgue, J.-M. Wilhelm, C. Boitard, J. Timsit.

Administrative, technical, or logistic support: S. Clauin, S. Beaufils.

Collection and assembly of data: C. Bellanné-Chantelot, D. Chauveau, J. Timsit.


Ann Intern Med. 2004;140(7):510-517. doi:10.7326/0003-4819-140-7-200404060-00009
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In this report, we describe the phenotype related to HNF-1β mutations in 13 patients belonging to 8 families. Our data show that molecular abnormalities of HNF-1β, including missense mutations, are responsible for multiorgan involvement and that the diagnosis of MODY5 should be considered in various clinical circumstances.

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Grahic Jump Location
Figure.
Pancreas and kidney abnormalities in patients with hepatocyte nuclear factor-1β (HNF-1β) mutation.

A,B, and C. Pancreas atrophy and kidney malformations evidenced by computed tomography in a 33-year-old man (patient II-2, family 2) with diabetes and mild renal failure. A. No pancreatic tissue was detected close to the splenic artery ( arrow) and the splenic vein (arrowheads). and The body and tail of the pancreas were not visible on serial axial slices. Only the head of the pancreas (arrowheads) was present. Bilateral renal cysts were also detected (arrows). D. Excretory urogram in the same patient shows caliceal clubbing and blunting. Some cysts communicate with the dilated calices and may be regarded as diverticula. E and F. Glomerulocystic disease on kidney biopsy specimen in a 24-year-old man (patient II-1, family 7) with diabetes, mild renal failure, and a mutation of β.E. Two microcysts are visible in the renal cortex, close to unaffected glomeruli (Jones staining).F. The presence of capillary loops (arrow) in the cyst (*) demonstrates its glomerular origin (Jones staining; magnification × 4 as compared with panel E).

Grahic Jump Location

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Summary for Patients

Maturity Onset Diabetes of the Young 5

The summary below is from the full report titled “Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1β Mutations.” It is in the 6 April 2004 issue of Annals of Internal Medicine (volume 140, pages 510-517). The authors are C. Bellanné-Chantelot, D. Chauveau, J.-F. Gautier, D. Dubois- Laforgue, S. Clauin, S. Beaufils, J.-M. Wilhelm, C. Boitard, L.-H. Noël, G. Velho, and J. Timsit.

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