Blog entry by mohammad katout

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Inherited Kidney Diseases Workshop (IKDW), Cairo 2012


Inherited Kidney Diseases Workshop was held in Cairo on April 19-20, 2012 as an ERA-EDTA CME course and organized by the Egyptian Group for Orphan Renal Diseases (EGORD) in partnership with the Global Kidney Academy and in collaboration of the Egyptian Society of Pediatric Nephrology & Transplantation (ESPNT).

Why an Inherited Kidney Diseases Workshop in the region?

Basically because Patients afflicted with these diseases are not treated equally to those with more common illnesses presumably due to:

  1. Disease related factors since many of these diseases are complex and have genetic or metabolic causes, only few physicians are aware of it whereas the majority is unlikely to have the necessary experience to diagnose or to offer a treatment, hence the delay in diagnosis and therapy. Also, the small patient populations with phenotypic variability imply limited knowledge of natural course which is all too often difficult to define.
  2. Country/Region related factors as most of the regional countries are emerging countries with limited health expenditure, let alone their struggle with the common and endemic illnesses consuming most of an essentially constrained    health budget. Moreover, the striking rates of consanguineous marriages in the region with the increased likelihood of autosomal  recessive diseases.

Professor Meguid El Nahas gave an outstanding lecture "Genetics of Kidney Diseases" and highlighted the relevance of genetics of albuminuria, hematuria as well as decreased GFR and its decline in CKD.

Dr John Sayer (UK) gave a comprehensive overview on "Cystic kidney diseases: approach and genetic updates" highlighting the phenotypic variability and genetic heterogeneity of most of these diseases.

Professor Elena Levtchnko (Belgium) gave a comprehensive review on cystinosis.  She particularly discussed the practical tools for diagnosis and treatment which should preferably start in the first year of life.

Professor Moin Saleem (UK) discussed the systematic approach of SRNS and the algorithm for genetic mutational analysis. He also came across the hereditary podocytopathies highlighting the variable clinical phenotypes and the principle genes involved in the genetic variants of SRNS.

Professor Constantinos Deltas (Cyprus) discussed the genetics of familial hematuria with the cypriotic experience showing that TBMN is not as always benign as previously thought. C3 glomerulonephritis CFHR 5 Nephropathy, with broad phenotypic variability is common in Cyprus. Interestingly all patients had mutations in COL4A3/COL4A4 genes as founder mutations.

IKDW managed to blow the whistle paving the way for more concrete actions to be taken to further promote awareness of inherited kidney diseases among the medical community in the region. The diagnostic and therapeutic hurdles should not be viewed as insurmountable since there is compelling medical and ethical reasons to address the needs of these patients.

The IKDW lectures will be available on OLA soon!











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