A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis

Abstract

Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. A 10-year-old boy had severe growth retardation (height standard deviation score -8.15). He had a thin, triangular face, prominent ears and forehead, and big eyes. Megacystis, bilateral hydroureteronephrosis, and residual urine were detected in ultrasonography, but there was no vesicoureteral reflux. Lumbosacral magnetic resonance (MR) showed posterior disc bulging at L4-5. Serum sodium and chloride levels were normal, but mild hypokalemia was overlooked initially. During follow-up, hypokalemic hypochloremic metabolic alkalosis developed, with high urinary chloride and potassium excretion (52 and 43 mEq/L, respectively). The patient, with renal salt loss, was thought to have classic Bartter syndrome due to absence of nephrocalcinosis, presence of persistent hypercalciuria and sensorineural deafness, and presence of relatively mild clinical and laboratory findings, except polyuria initially. The child was treated with indomethacin, spironolactone, and oral potassium in addition to growth hormone (GH). During treatment, he had considerable increase in weight and height compared with the period of GH therapy only. We present this case because, although growth retardation is a major feature of Bartter syndrome, associated GH deficiency is rarely reported in the literature. Diagnosis of Bartter syndrome was made later, as our patient was followed for megacystis and megaureter secondary to the neurogenic bladder and GH deficiency initially; and proteinuria associated with focal segmental glomerulosclerosis responded to treatment for Bartter syndrome.

A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5

“…Another factor may have been long-term treatment with non-steroidal antiinflammatory drugs [9]. In addition, Dent disease and Bartter syndrome themselves have been considered as possible causes of FGS [1,6,8,11]. Hypokalemic nephropathy might contribute to the development of end-stage renal failure in these patients.…”

“…Among them, the patient reported by Bogdanovic et al [3] also showed features of Bartter syndrome similar to our patient. Although the exact mechanism of the development of GHD is unknown, hypokalemia induces growth retardation through reduced circulating levels of GH and IGF-1 [1]. In addition, Bartter syndrome has been independently associated with GHD [1].…”

“…Although the exact mechanism of the development of GHD is unknown, hypokalemia induces growth retardation through reduced circulating levels of GH and IGF-1 [1]. In addition, Bartter syndrome has been independently associated with GHD [1]. GH replacement was effective for growth in three patients with Dent disease [3,10].…”

Clinical and Genetic Spectrum of Bartter Syndrome Type 3

“…Proteinuria, a low glomerular filtration rate and 10 FSGS have been reported in BS and GS patients 22,37-39 . It has been suggested that FSGS is a 11 secondary lesion due to adaptation to salt loss, resulting in chronic stimulation of the renin-12 angiotensin system 37,39,40 . In the present study FSGS occurred in late stage of CKD suggesting 13 a large contribution of nephron reduction.…”

Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis

“…Although BS is a typical tubular disorder, there have been several case reports of patients who developed focal segmental glomerulosclerosis (FSGS), a glomerular lesion, during the course of BS3-7). Such cases support a possible link between the two diseases, and indicate that stimulation of the renin-angiotensin system (RAS) and increased angiotensin II in response to chronic glomerular hyperfiltration due to salt-losing tubulopathy may lead to secondary FSGS3, 4, 8).…”