Results 101 to 110 of about 43,386 (236)

Autosomal-dominante polyzystische Nierenerkrankung: Neue therapeutische Ansätze [PDF]

, 2018
Zusammenfassung: Die autosomal-dominante polyzystische Nierenerkrankung ("autosomal dominant polycystic kidney disease", ADPKD) ist die häufigste genetische Nierenerkrankung, sie betrifft weltweit etwa 6Mio. Menschen.
Poster, D., Serra, A.L., Wüthrich, R.P.
core  

Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report [PDF]

, 2016
Townes‑Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end‑stage renal failure (ESRF) early
Bian, F, Gale, D, Jiang, GR, Lin, FJ, Lu, W, Yao, Y, Zou, R   +6 more
core   +1 more source

Presymptomatic Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease.

American Society of Nephrology. Clinical Journal, 2019
BACKGROUND AND OBJECTIVES Intracranial aneurysm rupture is the most devastating complication of autosomal dominant polycystic kidney disease. Whether selective or widespread intracranial aneurysm screening is indicated remains controversial.
Irina Sanchís, Shehbaz Shukoor, M. Irazabal, Charles D. Madsen, F. Chebib, M. Hogan, Z. El-Zoghby, P. Harris, J. Huston, Robert D. Brown, V. Torres   +10 more
semanticscholar   +1 more source

Medical Management of Polycystic Liver Disease: A Position Statement From the European Reference Network on Hepatological Diseases

Liver International, Volume 46, Issue 1, January 2026.
ABSTRACT Polycystic liver disease (PLD) is a rare genetic disorder characterised by progressive liver enlargement due to multiple cysts. The main symptoms are liver volume‐related. Although randomised controlled trials have shown that somatostatin analogues (SSAs) reduce liver volume as well as symptoms, specific guidance on when and how to use SSAs in
Sophia Heinrich, Andreia Margarida Carvalho de Matos, Jordi Colmenero, Ahmed M. Elsharkawy, Soňa Fraňková, Jan Halbritter, Anna Mrzljak, Roman‐Ulrich Müller, Rafaela Pereira, Pavel Strnad, Carmen A. J. Teemer, Jef Verbeek, Karolina M. Wronka, Frederik Nevens, Richard Taubert, Joost P. H. Drenth, on behalf of the European Reference Network on Hepatological Liver Diseases (ERN RARE‐LIVER)   +16 more
wiley   +1 more source

Autopsy Report with Clinical and Pathophysiologic Discussion of Autosomal Dominant Adult Polycystic Kidney Disease

Case Reports in Urology, 2014
The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal ...
Anup Hazra, Richard Siderits, Cheryl Rimmer, Noah Rolleri   +3 more
doaj   +1 more source

Positron-emission computed tomography in cyst infection diagnosis in patients with autosomal dominant polycystic kidney disease. [PDF]

, 2011
BACKGROUND: Cyst infection remains a challenging issue in patients with autosomal dominant polycystic kidney disease (ADPKD). In most patients, conventional imaging techniques are inconclusive.
Beguin, Claire, Devuyst, Olivier, Hassoun, Ziad, JOURET, François, Kanaan, Nada, Lhommel, Renaud, Pirson, Yves   +6 more
core   +1 more source

Successful Treatment of Posttransplant Refractory Pure Red Cell Aplasia Following Parvovirus B19 Infection

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Pure red cell aplasia (PRCA), a rare cause of anemia limited to the erythroid lineage, is characterized by normocytic normochromic anemia, severe reticulocytopenia, and markedly reduced or absent erythroid precursors in the bone marrow. We report a 44‐year‐old male with end‐stage renal disease (ESRD) secondary to autosomal dominant polycystic kidney ...
Yousef Ansara, Omar Marouf, Khalil Abualhumos, Mohammed AbuBaha, Hossam Salameh, Huda Saadeddin, Mohammad Al-Sheikh, Semonti Nandi   +7 more
wiley   +1 more source

Monkeys mutant for PKD1 recapitulate human autosomal dominant polycystic kidney disease

Nature Communications, 2019
Autosomal dominant polycystic kidney disease (ADPKD) caused by PKD1 mutations is one of the most common hereditary disorders. However, the key pathological processes underlying cyst development and exacerbation in pre-symptomatic stages remain unknown ...
Tomoyuki Tsukiyama, Kenichi Kobayashi, Masataka Nakaya, C. Iwatani, Y. Seita, H. Tsuchiya, Jun Matsushita, Kahoru Kitajima, Ikuo Kawamoto, Takahiro Nakagawa, K. Fukuda, Teppei Iwakiri, H. Izumi, I. Itagaki, S. Kume, H. Maegawa, R. Nishinakamura, Saori Nishio, Shin'ichiro Nakamura, A. Kawauchi, M. Ema   +20 more
semanticscholar   +1 more source

Epcoritamab for Relapsed/Refractory EBV+ Post‐Transplant Lymphoproliferative Disorder of DLBCL‐Type

eJHaem, Volume 6, Issue 6, December 2025.
Abstract Background Patients with relapsed/refractory post‐transplant lymphoproliferative disorder (R/R PTLD) following solid‐organ transplants (SOT) or hematopoietic stem cell transplants (HSCT) after frontline chemoimmunotherapy have dismal outcomes.
Li Yuan Chan, Simon O'Connor, Dima El‐Sharkawi, Sunil Iyengar   +3 more
wiley   +1 more source

Intracranial aneurysms in autosomal dominant polycystic kidney disease [PDF]

Kosin Medical Journal
Background The incidence of intracranial aneurysms (ICA) is high in patients with autosomal dominant polycystic kidney disease (ADPKD). However, little is known regarding the optimal screening and treatment methods for ICA.
Jung Hyun Park
doaj   +1 more source