BACKGROUND: Dense deposit disease (DDD) is an ultra-rare renal disease. METHODS: In the study reported here, 98 patients and their families participated in a descriptive patient-centered survey using an online research format. Reports were completed by patients (38%) or their parents (62%). Age at diagnosis ranged from 1.9 to 38.9 years (mean 14 years). RESULTS: The majority of patients presented with proteinuria and hematuria; 50% had hypertension and edema. Steroids were commonly prescribed, although their use was not evidence-based. One-half of the patients with DDD for 10 years progressed to end-stage renal disease (ESRD), with young females having the greatest risk for renal failure. Of first allografts, 45% failed within 5 years, most frequently due to recurrent disease (70%). Type 1 diabetes (T1D) was present in over 16% of families, which represents a 116-fold increase in incidence compared with the general population (p < 0.001). CONCLUSIONS: Based on these findings, we suggest that initiatives are needed to explore the high incidence of T1D in family members of DDD patients and the greater risk for progression to ESRD in young females with DDD. These efforts must be supported by sufficient numbers of patients to establish evidence-based practice guidelines for disease management. An international collaborative research survey should be implemented to encourage broad access and participation.
BACKGROUND: Dense deposit disease (DDD) is an ultra-rare renal disease. METHODS: In the study reported here, 98 patients and their families participated in a descriptive patient-centered survey using an online research format. Reports were completed by patients (38%) or their parents (62%). Age at diagnosis ranged from 1.9 to 38.9 years (mean 14 years). RESULTS: The majority of patients presented with proteinuria and hematuria; 50% had hypertension and edema. Steroids were commonly prescribed, although their use was not evidence-based. One-half of the patients with DDD for 10 years progressed to end-stage renal disease (ESRD), with young females having the greatest risk for renal failure. Of first allografts, 45% failed within 5 years, most frequently due to recurrent disease (70%). Type 1 diabetes (T1D) was present in over 16% of families, which represents a 116-fold increase in incidence compared with the general population (p < 0.001). CONCLUSIONS: Based on these findings, we suggest that initiatives are needed to explore the high incidence of T1D in family members of DDDpatients and the greater risk for progression to ESRD in young females with DDD. These efforts must be supported by sufficient numbers of patients to establish evidence-based practice guidelines for disease management. An international collaborative research survey should be implemented to encourage broad access and participation.
Authors: C L Holcomb; B Höglund; M W Anderson; L A Blake; I Böhme; M Egholm; D Ferriola; C Gabriel; S E Gelber; D Goodridge; S Hawbecker; R Klein; M Ladner; C Lind; D Monos; M J Pando; J Pröll; D C Sayer; G Schmitz-Agheguian; B B Simen; B Thiele; E A Trachtenberg; D B Tyan; R Wassmuth; S White; H A Erlich Journal: Tissue Antigens Date: 2011-03
Authors: Janette C Cansick; Rachel Lennon; Carole L Cummins; Alexander J Howie; Mary E McGraw; Moin A Saleem; E Jane Tizard; Sally-Anne Hulton; David V Milford; C Mark Taylor Journal: Nephrol Dial Transplant Date: 2004-09-22 Impact factor: 5.992
Authors: Françoise G Pradel; Rahul Jain; C Daniel Mullins; Joseph A Vassalotti; Stephen T Bartlett Journal: Clin J Am Soc Nephrol Date: 2008-10-01 Impact factor: 8.237
Authors: Matthias Heinig; Enrico Petretto; Chris Wallace; Leonardo Bottolo; Maxime Rotival; Han Lu; Yoyo Li; Rizwan Sarwar; Sarah R Langley; Anja Bauerfeind; Oliver Hummel; Young-Ae Lee; Svetlana Paskas; Carola Rintisch; Kathrin Saar; Jason Cooper; Rachel Buchan; Elizabeth E Gray; Jason G Cyster; Jeanette Erdmann; Christian Hengstenberg; Seraya Maouche; Willem H Ouwehand; Catherine M Rice; Nilesh J Samani; Heribert Schunkert; Alison H Goodall; Herbert Schulz; Helge G Roider; Martin Vingron; Stefan Blankenberg; Thomas Münzel; Tanja Zeller; Silke Szymczak; Andreas Ziegler; Laurence Tiret; Deborah J Smyth; Michal Pravenec; Timothy J Aitman; Francois Cambien; David Clayton; John A Todd; Norbert Hubner; Stuart A Cook Journal: Nature Date: 2010-09-08 Impact factor: 49.962
Authors: Michiel J S Oosterveld; Mark R Garrelfs; Bernd Hoppe; Sandrine Florquin; Joris J T H Roelofs; L P van den Heuvel; Kerstin Amann; Jean-Claude Davin; Antonia H M Bouts; Pietrik J Schriemer; Jaap W Groothoff Journal: Clin J Am Soc Nephrol Date: 2015-08-27 Impact factor: 8.237
Authors: Ana Sánchez-Moreno; Francisco De la Cerda; Rocío Cabrera; Julia Fijo; Margarita López-Trascasa; Rafael Bedoya; Santiago Rodríguez de Córdoba; Patricia Ybot-González Journal: Pediatr Nephrol Date: 2014-06-08 Impact factor: 3.714
Authors: Richard J H Smith; Gerald B Appel; Anna M Blom; H Terence Cook; Vivette D D'Agati; Fadi Fakhouri; Véronique Fremeaux-Bacchi; Mihály Józsi; David Kavanagh; John D Lambris; Marina Noris; Matthew C Pickering; Giuseppe Remuzzi; Santiago Rodriguez de Córdoba; Sanjeev Sethi; Johan Van der Vlag; Peter F Zipfel; Carla M Nester Journal: Nat Rev Nephrol Date: 2019-03 Impact factor: 28.314