| Abstract|| |
Occurrence of chronic renal disease in more than one member of a family is not uncommon. Here, we studied 29 families with such status. Genetic and heredofamilial causes were evaluated. These families have to be recognized for family counseling and the study of the pathogenesis of chronic renal failure.
Keywords: Families, Chronic renal disease, Madinah Al Munawarah.
|How to cite this article:|
Mohamed AO, Al-Shaebi FM, Osman S. Families with Chronic Renal Diseases: One Center Experience. Saudi J Kidney Dis Transpl 2005;16:81-3
|How to cite this URL:|
Mohamed AO, Al-Shaebi FM, Osman S. Families with Chronic Renal Diseases: One Center Experience. Saudi J Kidney Dis Transpl [serial online] 2005 [cited 2020 Jan 27];16:81-3. Available from: http://www.sjkdt.org/text.asp?2005/16/1/81/33706
| Introduction|| |
The causes of chronic renal failure (CRF) are very broadly divided into three groups. The first group includes the definitely genetically inherited diseases with already cloned genes such as the autosomal dominant polycystic kidney disease  and Alport's syndrome.  The second group includes the solely environmental diseases such as infections and the dose-dependent nephrotoxic drugs. The third group combines the genetic predilection to
develop the renal disease in association with the environmental causes; there is increased concordance for diabetic nephropathy within families and certain racial groups (African- Americans, Native Americans), suggesting a genetic component to diabetic nephropathy. , However, the specific genes that regulate the expression of diabetic nephropathy have yet to be cloned.
We studied the prevalence of families with known CKD in our population and the effect of this clustering on the delivery of nephrology services in our unit.
| Patients and Methods|| |
We reviewed the records of the 410 patients on regular hemodialysis (HD) at King Abdulaziz Center for Renal Diseases in Madinah Al Munawarah, Saudi Arabia for the causes and family history. All the patients were also directly interviewed about their awareness of any first or second degree relatives who had renal disease in order to document those with positive family history of kidney disease.
| Results|| |
There were 29 (7%) patients with positive family history of chronic renal disease; 20 patients were Saudis and nine were non-Saudis. We screened 86 family members; 36 were females and 50 were males, and included both first and second degree relatives. Forty-five (52%) individuals were on HD, two (2%) on peritoneal dialysis and six (7%) were transplanted, 14 (16%) had CRF but not yet started on renal replacement therapy (RRT) and 19 (22%) members were dead before the start of the study
Six families had well-known hereditary diseases, which cause renal failure. Four families had autosomal dominant polycystic kidney disease (ADPKD); two of these were Saudi families. The two Saudi families involved 12 individuals; three patients received HD, two died after initiation of HD, two had CRF but not yet on RRT and five were discovered during ultrasound screening but had normal renal function.
There was one family of Alport's syndrome composed of five Saudi males; three brothers and two cousins. Four of them were hypertensives and all had bilateral small kidneys. Four of the patients received HD and one had renal transplant. They all had sensorineural deafness on audiometry. No female in this family was known to have renal problems though formal studies were lacking.
One family had Laurence-Moon-Biedel syndrome; two sisters with the typical syndrome of mental retardation, obesity, polydactyly, and retinitis pigmentosa. None of the girls was diabetic and both had bilateral small kidneys. They were 19 and 15 years old respectively at the time of commencing HD. Their uncle who had the syndrome died after receiving HD.
Fourteen members of four families had diabetic nephropathy as an example of heredofamilial renal disease. Three families were composed of only first-degree relatives. The fourth family had three first-degree and two of second-degree relatives. All the living members had normal sized kidneys; eight were hypertensives. Six out of the 14 members died of renal failure.
In 19 families, no definitely underlying cause of renal failure, members of the family, could be identified. Fourteen families had bilateral small kidneys as a shared factor. Seven of these 14 families had hypertension in all the members involved. Small kidneys, hypertension, renal calculi and history of nephrectomy were found scattered in some members of the other five families without any common shared pathology.
| Discussion|| |
A chronic disease of any kind is a burden on the individual and his/her family. This includes financial, social, and psychological needs for rehabilitation. Our results show that the presence of chronic renal disease (CRD) in families is not uncommon. These 29 families had 67 living individuals with CRD of whom 53 were receiving one form of RRT. The six families with known hereditary disease, in addition to caring for CRD, have to care for the other ailments such as the sensori-neural deafness in Alport's and mental retardation in those with LaurenceMoon-Biedel syndrome. All these families had the worry about their children and whether they would ever develop CRD, and if so, when? And what could they do?
Unfortunately, genetic counseling in its proper delivery could not be offered to most of these families. These families definitely need all possible support from medical practitioners, social workers and where needed, financial assistance, which could be organized by the social workers in renal units.
In the CRD families with diabetes mellitus, most of the individuals involved were firstdegree relatives. This supports the notion that within the diabetic population there is a familial predilection to develop renal disease. However, the incidence and prevalence may be underestimated since this study was based on the information obtained by history and not laboratory tests. On the other hand, the present results strongly urge us to adopt family screening of a diabetic with CRD once diagnosed, which may have an impact on their management.
In 19/29 (65%) families, no common factor known to cause renal disease could be identified in all the members of the involved family. Fourteen had small kidneys that may suggest environmental factors leading to small kidneys e.g. chronic glomerulonephritis or chronic pyelonephritis. Finally, we believe that it is prudent to identify members of families with CRD from the rest of the renal disease population as they need special attention and more support.
| References|| |
|1.||Harris PC. Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1. Curr Opin Nephrol Hypertens 2002;11:309-14. |
|2.||Longo I, Porcedda P, Mari F, et al. COL 4 A3/COL4A4 mutations from familial hematuria to autosomal dominant or recessive Alport's Syndrome. Kidney Int 2002;61:1947-56. |
|3.||Searuist ER, Goetz FC, Rich S, Barbosa J. Familial clustering of diabetic kidney disease. Evidence for genetic susceptibility to diabetic nephropathy. N Engl J Med 1989;320:1161-5. |
|4.||Borch-Johnsen K, Norgaard K, Hommel E, et al. Is diabetic nephropathy an inherited complication? Kidney Int 1992;41;719-22. |
Abdelrahman Osman Mohamed
Department of Nephrology, IBN Sina Hospital, P.O. Box 8356, Ammarat, Khartoum, Sudan