Genetic Analysis in Bartter Syndrome from India

Bartter syndrome is a group of inherited, salt-losing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. Around 150 cases have been reported in literature till now. Mutations leading to salt losing tubulopathies are not routinely tested in Indian population. The authors have done the genetic analysis for the first time in the Bartter syndrome on two cases from India. First case was antenatal Bartter syndrome presenting with massive polyuria and hyperkalemia. Mutational analysis revealed compound heterozygous mutations in KCNJ1(ROMK) gene [p(Leu220Phe), p(Thr191Pro)]. Second case had a phenotypic presentation of classical Bartter syndrome however, genetic analysis revealed only heterozygous novel mutation in SLC12A gene p(Ala232Thr). Bartter syndrome is a clinical diagnosis and genetic analysis is recommended for prognostication and genetic counseling.     

Morphological Abnormalities of the Recto-Anal Inhibitory Reflex Reflects Symptom Pattern in Neurogenic Bowel

Background

Bowel dysfunction amongst multiple sclerosis (MS) and spinal cord injury (SCI) patients often manifests as fecal incontinence (FI) or constipation, but the pathophysiology is poorly understood. Anorectal physiology provides an objective assessment of lower bowel functions and is increasingly being used in clinical practice.

Aim

The purpose of this study was to correlate symptoms of bowel dysfunction in patients with spinal cord disease with findings in anorectal physiology. We hypothesized that specific abnormalities will correlate with symptoms: prolonged recto-anal inhibitory reflex in patients with incontinence and decreased rectal mucosal blood flow in patients with constipation.

Methods

Forty-nine patients with MS (35 with predominant FI and 14 constipation), 46 supraconal SCI (mixed symptom load), and 21 healthy volunteers matched for age and sex were studied. Subjects completed validated constipation and FI symptom questionnaires. Patients underwent standard anorectal physiology, including assessment of rectal mucosal blood flow and recto-anal inhibitory reflex (RAIR).

Results

Severity of constipation correlates significantly with distension sensitivity (urge volume [r = 0.68, p = 0.002] and maximal volume [r = 0.39, p = 0.03]). Severity of constipation also correlated with diminished rectal mucosal blood flow in both patient groups (r = ?0.51, p = 0.006). In both groups, constipation correlated with diminished relaxation of the sphincters in the RAIR whilst fecal incontinence correlated with a prolonged duration of RAIR (r = 0.33, p = 0.009) and recovery phase (r = 0.37, p = 0.05).

Conclusion

Bowel symptoms in patients with MS and SCI correlate with specific alterations of anorectal physiology. This provides objective assessment of bowel symptoms and may allow tailored treatment to individual patients.     

Living donor intestinal transplant using a standardized technique: first report from India

Aim

We describe the first living donor intestinal transplant (LDIT) in India and discuss the indications and problems of this complex procedure.

Methods

A 43-year-old male patient required massive bowel resection for gangrene due to thrombosis of the superior mesenteric artery. He was maintained on parenteral nutrition but developed cholestasis and well as repeated catheter related infections with progressive loss of venous access due to thrombosis of central veins. A LDIT was performed using 200?cm of small intestine from the patient's son. The graft was based on the continuation of the superior mesenteric vessels beyond the ileocolic branch. The artery was anastomosed directly to the aorta and the vein to the venacava.

Results

The graft functioned well and he was weaned off parenteral nutrition. However, he later developed complications (wound dehiscence and enterocutaneous fistula) and developed sepsis. He succumbed to sepsis with a functioning graft 6?weeks after the transplant. The donor recovered uneventfully and was discharged on the 4th postoperative day.

Conclusions

LDIT can be life saving in patients with intestinal failure and failure of parenteral nutrition. There is a need to introduce this modality in India. In a setting of scarcity of deceased donor organs the living donor option has advantages.     

Gastrointestinal mucormycosis—four cases with different risk factors, involving different anatomical sites

Mucormycosis of the gastrointestinal tract is a rare infection that usually occurs in patients who are immunocompromised and carries a high mortality. We report four cases of gastrointestinal mucormycosis seen over a one year period with different presentations, risk factors and different anatomical sites of involvement. A preoperative diagnosis was made only in one patient. All underwent surgery, three survived and one died postoperatively from multiorgan failure.