Fetal polycystic kidney disease in oro-facio-digital syndrome type I

被引：0
|
作者：
G. Nishimura
Shigeko Kuwashima
Tatsuo Kohno
Chie Teramoto
Hiroshi Watanabe
Takeo Kubota
机构：
[1] Department of Radiology,
[2] Dokkyo University School of Medicine,undefined
[3] 880 Kitakobayashi,undefined
[4] Mibu,undefined
[5] Shimotsuga-gun,undefined
[6] Tochigi-ken 321–02,undefined
[7] Japan,undefined
[8] Department of Pediatrics,undefined
[9] Dokkyo University School of Medicine,undefined
[10] Tochigi,undefined
[11] Japan,undefined
[12] Department of Obstetrics,undefined
[13] Dokkyo University School of Medicine,undefined
[14] Tochigi,undefined
[15] Japan,undefined
[16] Department of Hygiene and Medical Genetics,undefined
[17] Shinshu University School of Medicine,undefined
[18] Matsumoto,undefined
[19] Japan,undefined
来源：
Pediatric Radiology | 1999年 / 29卷
关键词：
Kidney Disease; Phenotypic Variation; Polycystic Kidney Disease; Syndrome Type; Polydactyly;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
We report a girl with oro-facio-digital syndrome type I (OFD I) associated with polycystic kidney disease (PKD), which was identified on fetal US and fetal MRI. After birth, the diagnosis of this X-linked dominant disorder, which is lethal in males, was achieved by recognition of facial dysmorphism, lingual hamartomas, postaxial polydactyly, brain malformations, and the existence of her deceased male sibling with similar malformations. Adult PKD is a common feature in heterozygous females with OFD I. However, fetal PKD has been reported only in a lethal homozygous male. Our observation expands our knowledge about the phenotypic variations of PKD in OFD I.
引用
收藏
页码：506 / 508
页数：2
相关论文
共 48 条
  • [21] Digital physical activity intervention via the Kidney BEAM platform in patients with polycystic kidney disease: a randomized controlled trial
    Briggs, Juliet
    Ralston, Elizabeth
    Wilkinson, Thomas J.
    Walklin, Christy
    Mangahis, Emmanuel
    Young, Hannah M. L.
    Castle, Ellen M.
    Billany, Roseanne E.
    Asgari, Elham
    Bhandari, Sunil
    Bramham, Kate
    Burton, James O.
    Campbell, Jackie
    Chilcot, Joseph
    Deelchand, Vashist
    Hamilton, Alexander
    Jesky, Mark
    Kalra, Philip A.
    Mccafferty, Kieran
    Nixon, Andrew C.
    Saynor, Zoe L.
    Taal, Maarten W.
    Tollitt, James
    Wheeler, David C.
    Macdonald, Jamie
    Greenwood, Sharlene A.
    CLINICAL KIDNEY JOURNAL, 2025, 18 (03)
  • [22] Giant Aortic Arch Aneurysm Presenting as Ortner's Syndrome in Polycystic Kidney Disease: A Radiological Perspective
    Wander, Arvinder
    Basra, Vandeep S.
    Malhi, Tejinder S.
    Singh, Ramandeep
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (06)
  • [23] Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease
    Iijima, Takashi
    Hoshino, Junichi
    Mise, Koki
    Sumida, Keiichi
    Suwabe, Tatsuya
    Hayami, Noriko
    Ueno, Toshiharu
    Takaichi, Kenmei
    Fujii, Takeshi
    Ohashi, Kenichi
    Morisada, Naoya
    Iijima, Kazumoto
    Ubara, Yoshifumi
    HUMAN PATHOLOGY, 2016, 55 : 24 - 29
  • [24] Green mamba peptide targets type-2 vasopressin receptor against polycystic kidney disease
    Ciolek, Justyna
    Reinfrank, Helen
    Quinton, Loic
    Viengchareun, Say
    Stura, Enrico A.
    Vera, Laura
    Sigismeau, Sabrina
    Mouillac, Bernard
    Orcel, Helene
    Peigneur, Steve
    Tytgat, Jan
    Droctove, Laura
    Beau, Fabrice
    Nevoux, Jerome
    Lombes, Marc
    Mourier, Gilles
    De Pauw, Edwin
    Servent, Denis
    Mendre, Christiane
    Witzgall, Ralph
    Gilles, Nicolas
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2017, 114 (27) : 7154 - 7159
  • [25] The pathogenesis of the clinical features of oral-facial-digital syndrome type I
    AlKattan, Wael M.
    Al-Qattan, Mohammad M.
    Bafaqeeh, Sameer A.
    SAUDI MEDICAL JOURNAL, 2015, 36 (11) : 1277 - 1284
  • [26] Acute coronary syndrome in patients with autosomal dominant polycystic kidney disease: a systematic review and meta-analysis
    Ahmed, Ashraf
    Nayak, Sandeep
    Hoteit, Mayssaa
    Ameen, Daniyal
    Bauer, David
    Elshenawy, Salem
    Stolear, Anton
    Kaddoura, Rasha
    Buller, Gregory
    INTERNAL MEDICINE JOURNAL, 2025, 55 (03) : 493 - 502
  • [27] Cardiovascular changes in Persian cats with polycystic kidney disease: a study of cardiac troponin I, echocardiography and blood pressure
    Saberi, Niloufar
    Khaksar, Ehsan
    Molazem, Mohammad
    Rafiee, Seeyamak Mashhady
    JOURNAL OF FELINE MEDICINE AND SURGERY, 2025, 27 (01)
  • [28] Autosomal dominant polycystic kidney disease and pericardial effusion: coincidence? I think not! Case report and review of the literature
    Rigamonti, Elia
    Caruzzo, Carlo Alberto
    Valotta, Amabile
    Caretta, Alessandro
    Scopigni, Francesca Romana
    EUROPEAN HEART JOURNAL-CASE REPORTS, 2024, 8 (04)
  • [29] Acute coronary syndrome in patients with autosomal dominant polycystic kidney disease: a systematic review and meta-analysis
    Ahmed, Ashraf
    Nayak, Sandeep
    Hoteit, Mayssaa
    Ameen, Daniyal
    Bauer, David
    Elshenawy, Salem
    Stolear, Anton
    Kaddoura, Rasha
    Buller, Gregory
    INTERNAL MEDICINE JOURNAL, 2025,
  • [30] Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients
    Aoun, Bilal
    Sanjad, Sami
    Degheili, Jad A.
    Barhoumi, Abir
    Bassyouni, Amina
    Karam, Pascale E.
    FRONTIERS IN PEDIATRICS, 2020, 8
12345