1/14. ARC syndrome: an expanding range of phenotypes.AIM: To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. methods: The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. RESULTS: All patients had the typical pattern of arthrogryposis. Renal fanconi syndrome was present in all but one patient, who presented with nephrogenic diabetes insipidus. Although all patients had severe cholestasis, serum gamma glutamyltransferase values were normal. Many of our patients showed dysmorphic features or ichthyosis. All had recurrent febrile illnesses, diarrhoea, and failed to thrive. blood films revealed abnormally large platelets. CONCLUSIONS: ARC syndrome exhibits notable clinical variability and may not be as rare as previously thought. The association of fanconi syndrome, ichthyosis, dysmorphism, jaundice, and diarrhoea has previously been reported as a separate syndrome: our observations indicate that it is part of the ARC spectrum.- - - - - - - - - - ranking = 1keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
2/14. acetazolamide-induced muscle weakness in hypokalemic periodic paralysis.A 46-year-old man with hypokalemic periodic paralysis (HypoPP) and diabetes mellitus (DM) had worsened muscle weakness after acetazolamide (ACZ) treatment. During the paralytic episode, serum potassium levels were reduced, and serum chloride and insulin levels were increased. The data suggested proximal renal tubular acidosis due to ACZ. We determined arterial-venous concentrations of potassium, insulin and glucose across the forearm. Venous potassium levels were markedly reduced. ACZ is thought to potentiate potassium uptake into muscles. Hyperinsulinemia and DM could contribute to ACZ-induced exacerbation in our patient. We should pay more attention to ACZ-treated HypoPP patients with hyperinsulinemia and DM.- - - - - - - - - - ranking = 0.0067056827929008keywords = diabetes (Clic here for more details about this article) |
3/14. The spectrum of renal tubular acidosis in paediatric Sjogren syndrome.OBJECTIVES: Renal tubular acidosis (RTA) is a well-recognized extraglandular complication of adult Sjogren syndrome (SS) but has been reported only rarely in paediatric SS. We wished to describe the natural history of RTA in paediatric SS. methods: We performed a chart and literature review. Inclusion criteria were primary or secondary SS with onset before 18 yr of age, complicated by RTA before 18 yr of age. RESULTS: Twelve cases were identified: two from chart review and 10 from the literature. RTA was mostly associated with primary SS. RTA was detected at the onset of SS or up to 9 yr later. The clinical spectrum ranged from nearly silent to life-threatening, with plasma pH and serum potassium as low as 7.0 and 1.2 mEq/l, respectively. Hypokalaemia was present in 92%. Half the patients presented with profound weakness or paralysis, most likely from hypokalaemia. Proximal, distal and mixed RTA were detected, reflecting a diffuse 'tubulopathy' from interstitial nephritis, which was the predominant histopathological finding. diabetes insipidus was the most frequent renal comorbidity. The RTA stabilized in 82% of the cases and resolved in one case. Only one patient had long-term unstable RTA. CONCLUSIONS: RTA is an under-recognized complication of paediatric SS. It can be life-threatening in the acute phase but generally has a good long-term renal outcome. SS should be considered in the older child with otherwise unexplained RTA. Likewise, RTA should be excluded in children and adolescents with SS who develop weakness, fatigue or growth failure. Early recognition would reduce long-term complications such as growth failure.- - - - - - - - - - ranking = 0.19690998718643keywords = insipidus (Clic here for more details about this article) |
4/14. sodium chloride restriction and extracellular fluid volume contraction in hyperphosphatiuric vitamin d resistant rickets in the Lowe syndrome.A patient with a Lowe syndrome was observed from birth. Progressive hyperchloraemic renal tubular acidosis, hypophosphataemia, hyperphosphaturia and generalized hyperaminoaciduria had developed in infancy. Supplementary vitamin d, alkali and a high intake of dietary phosphate were unsuccessful in controlling the severe phosphate diabetes and rickets. Contraction of the extracellular fluid volume by dietary sodium restriction resulted in correction of the acidosis, hypophosphataemia, hyperaminoaciduria, and hyperphosphaturia, and healing of the rickets.- - - - - - - - - - ranking = 0.0067056827929008keywords = diabetes (Clic here for more details about this article) |
5/14. nephrocalcinosis in sjogren's syndrome: a late sequela of renal tubular acidosis.sjogren's syndrome (SS) is an autoimmune exocrinopathy that develops into systemic autoimmune disease in 25% of patients, leading to general complications, one of which is kidney involvement. It presents mainly as interstitial nephritis, disclosed by hyposthenuria, distal renal tubular acidosis (RTA) and diabetes insipidus. We here describe five cases of SS with type-1 RTA (hyperchloraemic metabolic acidosis with an anion gap and alkaline urine pH) who developed nephrolithiasis, nephrocalcinosis and renal insufficiency. hypercalciuria due to acidosis was the main nephrocalcinosis-prone factor in four patients; four subjects displayed diminished renal concentrating capacity, and two had hypokalaemia.- - - - - - - - - - ranking = 1keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
6/14. Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following longterm lithium administration.We report a patient who developed persistent nephrogenic diabetes insipidus associated with renal tubular acidosis, renal resistance to parathyroid hormone, aminoaciduria and proximal tubule pattern proteinuria in the presence of a reduced glomerular filtration rate (19-24 ml/min). A review of the previous reports of persistent nephrogenic diabetes insipidus revealed that in all patients the glomerular filtration rate had been less than 60 ml/min at presentation. Chronic renal failure may therefore predispose to the development of persistent nephrogenic diabetes insipidus in patients receiving lithium.- - - - - - - - - - ranking = 7keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
7/14. aniridia/glaucoma and wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness.A consanguinous couple had a healthy boy and 2 children, a girl and a boy, with distal renal tubular acidosis and sensory nerve deafness. In addition, the girl had congenital glaucoma and malformation of the iris; the boy developed wilms tumor and insulin-dependent diabetes mellitus. The possible significance of these associations is discussed.- - - - - - - - - - ranking = 0.0067056827929008keywords = diabetes (Clic here for more details about this article) |
8/14. Lithium and the kidney.Three middle-aged women treated with lithium carbonate for a manic-depressive illness have had complicating nephrogenic diabetes insipidus, renal tubular acidosis, acute reversible renal functional impairment in association with hypercalcaemia, or irreversible chronic renal damage. Renal toxicity developed in the presence of normal levels of lithium in the serum. The possibility of permanent renal damage as a result of long-term lithium therapy is of major concern.- - - - - - - - - - ranking = 1keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
9/14. Extensive glomerular immaturity associated with renal tubular acidosis, nephrogenic diabetes insipidus and nephrocalcinosis.Neonatal renal failure and glomerular immaturity have been described in 1983. The present paper describes 3 cases with the same histological features. However, follow-up of the patients during 14, 18 and 4 years, respectively, showed the following: The histologic immaturity may be followed by maturation. Thus, late maturation may be a term more suitable to designate this constellation. Renal failure may not necessarily ensue, at least not during early infancy. In the 3 cases presented in this report, the histological finding is associated with renal tubular acidosis, renal diabetes insipidus and nephrocalcinosis. The association of transient glomerular immaturity (or late glomerular maturation) and renal tubular acidosis may enhance the development of nephrocalcinosis.- - - - - - - - - - ranking = 5keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
10/14. Idiopathic hypergammaglobulinaemia associated with nephrogenic diabetes insipidus and distal renal tubular acidosis.Renal tubular dysfunction may be recognized in patients suffering from urinary light chain disease or non-myelomatous hypergammaglobulinaemia. We report a patient who has the combination of distal renal tubular acidosis and nephrogenic diabetes insipidus in association with hypergammaglobulinaemia due solely to increased IgG. We postulate that the abnormalities of distal nephron function resulted from cell-mediated immune damage.- - - - - - - - - - ranking = 5keywords = diabetes insipidus, insipidus, diabetes (Clic here for more details about this article) |
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