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Long-term outcome of paediatric patients with hereditary tubular disorders
D Haffner1, A Weinfurth, F Manz
1Department of Paediatrics, University of Heidelberg, Germany.
Insights
Hereditary tubular disorders (HTD) in children often lead to chronic kidney disease and significant growth issues. Adult nephrologists must manage these complex cases due to frequent progressive complications.
Area of Science:
- Nephrology
- Paediatric Nephrology
- Genetics
Background:
- Advances in diagnostics and therapeutics allow more children with hereditary tubular disorders (HTD) to reach adulthood.
- There is a growing need for adult centers to manage these patients.
- Limited data exists on the prevalence and long-term clinical problems of HTD patients.
Purpose of the Study:
- To analyze the prevalence and long-term outcomes of pediatric patients with hereditary tubular disorders.
- To investigate renal function, bone disease, and body growth in patients with HTD.
- To identify factors associated with disease progression and complications.
Main Methods:
- Retrospective observation of 177 pediatric patients with isolated or complex HTD.
- Data collected between 1969 and 1994.
- Analysis of long-term outcomes including renal function, bone disease, and body growth.
Main Results:
- HTD prevalence was 3.2% of all renal unit patients and 14% of those with chronic renal failure.
- Nephropathic cystinosis, X-linked hypophosphatemic rickets, and idiopathic hypercalciuria were most frequent.
- 12-30% of isolated/complex HTD patients developed preterminal chronic renal failure or end-stage renal disease, respectively.
- 48% of grown-up patients experienced subnormal adult height; growth retardation was more severe in complex HTD.
- Nephrocalcinosis (42%), urolithiasis (14%), and bone deformities (28%) were common complications.
Conclusions:
- Hereditary tubular disorders are rare but frequently progressive nephropathies.
- Extrarenal complications are common and require attention beyond pediatric care.
- Nephrologists should be prepared to manage HTD patients into adulthood.
Background:
An increasing number of children with hereditary tubular disorders (HTD) reach adult life due to diagnostic and therapeutic advances which results in growing need to manage these patients by adult centres. Data on the prevalence and the late clinical problems of these patients are limited.
Methods:
We observed 177 paediatric patients with isolated or complex HTD between 1969 and 1994. The median age at the time of diagnosis was 3 (range 0-18) years and the median observation period 10 (range 1-43) years. The long-term outcomes with respect to renal function, bone disease, and body growth were analyzed.
Results:
The prevalence of HTD was 3.2% of all patients observed in our renal unit and 14% of those patients with chronic renal failure and/ or end-stage renal disease. The three most frequent disorders observed were nephropathic cystinosis (n = 34), X-linked hypophosphataemic rickets (n = 26), and idiopathic hypercalciuria (n = 17). At the last observation, 12% of the patients with isolated HTD and 30% of those with complex HTD had developed preterminal chronic renal failure; end-stage renal disease was observed in 5 and 25%, respectively (p < 0.001). Progressive disease occurred mainly in patients having cystinosis, primary hyperoxaluria, the syndrome of hypomagnesaemia/hypercalciuria, primary Fanconi syndrome, Fanconi-Bickel syndrome, and methylmalonic aciduria. Nephrocalcinosis was found in 42%, urolithiasis in 14%, bone deformities and/or fractures in 28%, and other extrarenal alterations in 29% of all patients. The median body height at last observation was 2.0 SD below the normal mean (range from -10.4 to +2. 6), and the adult height was subnormal in 48% of 67 grown-up patients. Growth retardation was more severe in complex than in isolated HTD. The mortality decreased from 17% in 1969-1981 to 12% in 1982-1994.
Conclusion:
Although HTD are rare nephropathies, their frequently progressive course associated with extrarenal complications requires the attention of nephrologists beyond the paediatric age.